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Genes:
A4GNT, AADAC, AADACL2, ABHD10, ABI3BP, ABTB1, AC022498.1, ACAD11, ACAD9, ACAP2, ACKR2, ACPL2, ACPP, ACTL6A, ACTR8, ACVR2B, ADAMTS9, ADCY5, ADPRH, AGTR1, ALCAM, ALDH1L1, ALS2CL, ANKRD28, ANKUB1, ANO10, AP2M1, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARPP21, ATG3, ATG7, ATP13A4, ATP13A5, ATP2B2, ATR, ATXN7, B4GALT4, BCL6, BFSP2, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf22, C3orf27, C3orf30, C3orf33, C3orf38, C3orf49, C3orf52, CACNA1D, CACNA2D3, CAMKV, CAND2, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC36, CCDC37, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCR2, CCR3, CCR8, CCRL2, CD200, CD200R1, CD200R1L, CD86, CD96, CDCP1, CEP63, CEP70, CEP97, CHDH, CHL1, CHMP2B, CHRD, CHST13, CIDEC, CLCN2, CLDN1, CLDN16, CLSTN2, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COLQ, COMMD2, COX17, CP, CPA3, CPB1, CPN2, CPOX, CRELD1, CRTAP, CRYBG3, CSPG5, CSRNP1, CSTA, CX3CR1, CYP8B1, DAG1, DBR1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DGKG, DHX36, DNAH1, DNAH12, DNAJB8, DNAJC13, DNASE1L3, DPH3, DPPA4, DRD3, DTX3L, DUSP7, DYNC1LI1, DZIP1L, DZIP3, ECE2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EIF2B5, EIF4G1, ENTPD3, EOMES, EPHB1, EPHB3, EPM2AIP1, ERC2, ESYT3, EXOSC7, FAIM, FAM107A, FAM131A, FAM194A, FAM198A, FAM208A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FGD5, FLNB, FRG2C, FRMD4B, FSTL1, FYCO1, FYTTD1, GABRR3, GATA2, GBE1, GFM1, GHSR, GK5, GLB1, GMNC, GMPPB, GNAI2, GNB4, GNL3, GOLGA4, GOLGB1, GP5, GPR128, GPR149, GPR156, GPR62, GPR87, GRAMD1C, GRM7, GUCA1C, H1FOO, HCLS1, HEG1, HEMK1, HHATL, HHLA2, HLTF, HPS3, HRG, HRH1, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFRD2, IFT122, IFT80, IGSF11, IL17RB, IL17RC, IL17RD, IL5RA, ILDR1, IMPG2, IP6K2, IQCB1, IQCF2, IQSEC1, IRAK2, ITGA9, ITIH1, ITIH3, ITIH4, ITPR1, KALRN, KBTBD12, KCNMB2, KCNMB3, KIAA1257, KIAA1407, KIAA2018, KIF15, KIF9, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KY, LAMB2, LAMP3, LARS2, LIMD1, LINC01100, LIPH, LMCD1, LNP1, LPP, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC58, LRRIQ4, LRRN1, LSG1, LTF, LXN, LYZL4, MAATS1, MAGEF1, MAP4, MASP1, MBD4, MCCC1, MCF2L2, MCM2, MED12L, METTL6, MFN1, MFSD1, MINA, MLF1, MLH1, MON1A, MORC1, MRPL47, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYNN, MYRIP, NAALADL2, NBEAL2, NCEH1, NCKIPSD, NDUFB5, NEK10, NEK11, NEK4, NFKBIZ, NICN1, NISCH, NKIRAS1, NR1D2, NR1I2, NRROS, NT5DC2, NUP210, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H6, OR5K2, OR5K3, OR5K4, OSBPL10, OXNAD1, OXSM, OXTR, P2RY12, P2RY13, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCOLCE2, PCYT1A, PDCD6IP, PDE12, PDHB, PDZRN3, PHF7, PHLDB2, PIGX, PIGZ, PIK3R4, PLA1A, PLCH1, PLCL2, PLD1, PLOD2, PLS1, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PP13439, PP2D1, PPP2R3A, PRICKLE2, PRKCD, PRKCI, PROS1, PRR23A, PRR23C, PRRT3, PRSS45, PRSS46, PRSS50, PSMD6, PTPN23, PTPRG, PTX3, PYDC2, RAB5A, RAD18, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RETNLB, RFC4, RFTN1, ROBO1, ROBO2, RP11-159G9.5, RP11-3B7.1, RP11-433C9.2, RP11-553A10.1, RPN1, RTP1, RTP2, RTP4, RYBP, RYK, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEMA3F, SEMA3G, SEMA5B, SENP7, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SHQ1, SI, SIDT1, SKIL, SLC12A8, SLC22A14, SLC25A38, SLC2A2, SLC35G2, SLC41A3, SLC4A7, SLC51A, SLC6A11, SLC6A20, SLC9A9, SLC9C1, SMARCC1, SNX4, SPATA16, SPCS1, SPINK8, SPSB4, SRPRB, SSUH2, ST3GAL6, STAB1, STAG1, STT3B, STXBP5L, SUCLG2, SUMF1, SUSD5, TAMM41, TATDN2, TDGF1, TF, TFRC, TGM4, THUMPD3, TKT, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM108, TMEM110-MUSTN1, TMEM158, TMEM40, TMEM43, TMEM44, TMF1, TMPRSS7, TNFSF10, TNIK, TOPAZ1, TOPBP1, TPRG1, TPRXL, TRAIP, TRAK1, TRANK1, TRH, TRIM42, TRIM71, TRNT1, TRPC1, TSC22D2, TTC21A, TTLL3, TXNRD3, UBE2E1, UBE2E2, UBP1, ULK4, UMPS, UPK1B, UROC1, UTS2B, VEPH1, VGLL4, VPRBP, VPS8, WDR49, WDR52, WDR5B, XCR1, XIRP1, XPC, XYLB, YEATS2, ZBBX, ZCWPW2, ZDHHC19, ZDHHC23, ZIC4, ZKSCAN7, ZNF148, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC,

Genes at Omim

ACAD9, ACVR2B, ADCY5, AGTR1, ANO10, ARHGAP31, ATP2B2, ATR, ATXN7, BCL6, BFSP2, BTD, CACNA1D, CASR, CAV3, CCDC50, CCR2, CD96, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CLDN16, COL7A1, COLQ, CP, CPOX, CRELD1, CRTAP, CSTA, CX3CR1, DAG1, DNASE1L3, DRD3, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNAI2, GNB4, HPS3, HRG, IFT122, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, KALRN, KLHL40, KNG1, KY, LAMB2, LARS2, LIPH, LPP, MASP1, MCCC1, MCM2, MLF1, MLH1, MST1R, MYLK, NBEAL2, P2RY12, PCYT1A, PDHB, PLOD2, POGLUT1, POMGNT2, PRKCD, PROS1, RASSF1, ROBO2, SCN10A, SCN11A, SCN5A, SERPINI1, SETD2, SETD5, SI, SLC25A38, SLC2A2, SLC6A20, SLC9A9, SPATA16, STT3B, SUMF1, TDGF1, TF, TFRC, TKT, TMEM43, TNIK, TRAIP, TRH, TRNT1, UMPS, UROC1, XPC,
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
AGTR1 Renal tubular dysgenesis, 267430 (3)
{Hypertension, essential}, 145500 (3)
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCL6 Lymphoma, B-cell (2)
BFSP2 Cataract 12, multiple types, 611597 (3)
BTD Biotinidase deficiency, 253260 (3)
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
CASR Hypercalciuric hypercalcemia (3)
Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Calcium, serum level of} (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CAV3 Cardiomyopathy, familial hypertrophic, 192600 (3)
Creatine phosphokinase, elevated serum, 123320 (3)
Long QT syndrome 9, 611818 (3)
Muscular dystrophy, limb-girdle, type IC, 607801 (3)
Myopathy, distal, Tateyama type, 614321 (3)
Rippling muscle disease, 606072 (3)
CCDC50 ?Deafness, autosomal dominant 44, 607453 (3)
CCR2 {HIV infection, susceptibility/resistance to} (3)
CD96 C syndrome, 211750 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CIDEC ?Lipodystrophy, familial partial, type 5, 615238 (3)
CLCN2 Leukoencephalopathy with ataxia, 615651 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
COL7A1 EBD inversa, 226600 (3)
EBD, Bart type, 132000 (3)
EBD, localisata variant (3)
Epidermolysis bullosa dystrophica, AD, 131750 (3)
Epidermolysis bullosa dystrophica, AR, 226600 (3)
Epidermolysis bullosa pruriginosa, 604129 (3)
Epidermolysis bullosa, pretibial, 131850 (3)
Toenail dystrophy, isolated, 607523 (3)
Transient bullous of the newborn, 131705 (3)
COLQ Myasthenic syndrome, congenital, 5, 603034 (3)
CP Cerebellar ataxia, 604290 (3)
Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CPOX Coproporphyria, 121300 (3)
Harderoporphyria, 121300 (3)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CRTAP Osteogenesis imperfecta, type VII, 610682 (3)
CSTA Peeling skin syndrome 4, 607936 (3)
CX3CR1 {Coronary artery disease, resistance to}, 607339 (3)
{Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DNASE1L3 Systemic lupus erythematosus 16, 614420 (3)
DRD3 {Essential tremor, susceptibility to}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
EIF2B5 Leukoencephalopathy with vanishing white matter, 603896 (3)
Ovarioleukodystrophy, 603896 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GATA2 Emberger syndrome, 614038 (3)
Immunodeficiency 21, 614172 (3)
{Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 (3)
GHSR Growth hormone deficiency, isolated partial, 615925 (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GNAI2 Pituitary ACTH-secreting adenoma (3)
Ventricular tachycardia, idiopathic, 192605 (3)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
HPS3 Hermansky-Pudlak syndrome 3, 614072 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT122 Cranioectodermal dysplasia 1, 218330 (3)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
ILDR1 Deafness, autosomal recessive 42, 609646 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LIPH Hypotrichosis 7, 604379 (3)
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
LPP Leukemia, acute myeloid, 601626 (3)
Lipoma (3)
MASP1 3MC syndrome 1, 257920 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCM2 ?Deafness, autosomal dominant 70, 616968 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
P2RY12 Bleeding disorder, platelet-type, 8, 609821 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PLOD2 Bruck syndrome 2, 609220 (3)
POGLUT1 Dowling-Degos disease 4, 615696 (3)
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
RASSF1 Lung cancer, 211980 (2)
ROBO2 Vesicoureteral reflux 2, 610878 (3)
SCN10A Episodic pain syndrome, familial, 2, 615551 (3)
SCN11A Episodic pain syndrome, familial, 3, 615552 (3)
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A9 ?{Autism susceptibility 16}, 613410 (3)
SPATA16 ?Spermatogenic failure 6, 102530 (3)
STT3B ?Congenital disorder of glycosylation, type Ix, 615597 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (3)
TKT Short stature, developmental delay, and congenital heart defects, 617044 (3)
TMEM43 Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
TNIK Mental retardation, autosomal recessive 54, 617028 (3)
TRAIP Seckel syndrome 9, 616777 (3)
TRH Thyrotropin-releasing hormone deficiency, 275120 (1)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
UMPS Orotic aciduria, 258900 (3)
UROC1 ?Urocanase deficiency, 276880 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

ACAD9, ACVR2B, ADCY5, AGTR1, ALS2CL, ANO10, ARHGAP31, ATR, ATXN7, BFSP2, BTD, CACNA1D, CASR, CAV3, CCDC14, CCDC50, CD96, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CLDN16, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CRTAP, CSTA, DAG1, DNAH1, DNAJC13, DNASE1L3, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNB4, HPS3, HRG, IFT122, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, KLHL40, KNG1, LAMB2, LARS2, LIPH, MASP1, MCCC1, MLH1, MYLK, NBEAL2, P2RY12, PBRM1, PCYT1A, PDHB, PLOD2, POGLUT1, POMGNT2, PRICKLE2, PRKCD, PROS1, ROBO2, SCN11A, SCN5A, SERPINI1, SETD2, SETD5, SI, SLC25A38, SLC2A2, SLC6A20, SLC9A9, SPATA16, STT3B, SUMF1, TDGF1, TF, TFRC, TMEM43, TRAIP, TRNT1, UMPS, UROC1, XPC,
ACAD9 Acyl-CoA dehydrogenase family, member 9, deficiency of
ACVR2B Heterotaxy, visceral, 4, autosomal
ADCY5 Dyskinesia, familial, with facial myokymia
AGTR1 Renal tubular dysgenesis
ALS2CL Schizophrenia
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Seckel syndrome 1
Cutaneous telangiectasia and cancer syndrome, familial
ATXN7 Spinocerebellar ataxia 7
BFSP2 Cataract 12, multiple types
BTD Biotinidase deficiency
CACNA1D Sinoatrial node dysfunction and deafness
Primary aldosteronism, seizures, and neurologic abnormalities
CASR Hyperparathyroidism, familial primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, neonatal severe primary
Hypocalciuric hypercalcemia, type I
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalcemia, autosomal dominant
Hyperparathyroidism, neonatal
CAV3 Creatine phosphokinase, elevated serum
Long QT syndrome 9
Cardiomyopathy, familial hypertrophic
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC50 Deafness, autosomal dominant 44
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CEP63 Seckel syndrome 6
CHMP2B Frontotemporal dementia, chromosome 3-linked
Dementia, familial, nonspecific
Amyotrophic lateral sclerosis, CHMP2B-related
CIDEC Lipodystrophy, familial partial, type 5
CLCN2 Leukoencephalopathy with ataxia
Epilepsy, juvenile myoclonic, susceptibility to, 8
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, idiopathic, generalized, susceptibility to, 11
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CLDN16 Hypomagnesemia 3, renal
CNBP Myotonic dystrophy 2
COL7A1 Transient bullous dermolysis of the newborn
Epidermolysis bullosa, pretibial
Epidermolysis bullosa dystrophica, Bart type
Nail disorder, nonsyndromic congenital, 8
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa dystrophica inversia
Epidermolysis bullosa dystrophica, autosomal recessive
Epidermolysis bullosa dystrophica, autosomal dominant
COLQ Myasthenic syndrome, congenital 5
CP Hypoceruloplasminemia
Aceruloplasminemia
CPOX Harderoporphyria
Coproporphyria
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CRTAP Osteogenesis imperfecta, type VII
CSTA Peeling skin syndrome 4
DAG1 Muscular dystrophy-dystroglycanopathy, type C, 9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
DNAH1 Spermatogenic failure
DNAJC13 Parkinson disease 21
DNASE1L3 Systemic lupus erythematosus 16
EIF2B5 Ovarioleukodystrophy
Leukoencephalopathy with vanishing white matter
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
FANCD2 Fanconi anemia, complementation group D2
FLNB Atelosteogenesis, type III
Atelosteogenesis, type I
Boomerang dysplasia
Spondylocarpotarsal synostosis syndrome
Larsen syndrome
FYCO1 Cataract, autosomal recessive congenital 2
GATA2 Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
Acute myeloid leukemia, familial
Myelodysplastic syndrome
Emberger syndrome
Immunodeficiency 21
GBE1 Glycogen storage disease IV
GFM1 Combined oxidative phosphorylation deficiency 1
GHSR Short stature
GLB1 GM1-gangliosidosis, type III
GM1-gangliosidosis, type II
GM1-gangliosidosis, type I
Mucopolysaccharidosis type IVB (Morquio syndrome B)
GMPPB Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT122 Sensenbrenner syndrome
Cranioectodermal dysplasia 1
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL17RC Candiasis, familial, 9
IL17RD Hypogonadotropic hypogonadism 18, with or without anosmia
ILDR1 Deafness, autosomal recessive 42
IMPG2 Retinitis pigmentosa 56
IQCB1 Senior-Loken syndrome 5
ITPR1 Spinocerebellar ataxia 29
Spinocerebellar ataxia 15
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MLH1 Muir-Torre syndrome
Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
P2RY12 Bleeding disorder, platelet-type, 8
PBRM1 Clear cell renal cell carcinoma
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
PLOD2 Bruck syndrome 2
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PRICKLE2 Epilepsy, progessive myoclonic 5
PRKCD Autoimmune lymphoproliferative syndrome type III
PROS1 Thrombophilia, hereditary, due to protein S deficiency
ROBO2 Congenital anomalies of the kidney and urinary tract
SCN11A Neuropathy, hereditary sensory and autonomic, type VI
Episodic pain syndrome, familial, 3
SCN5A Ventricular fibrillation, familial 1
Brugada syndrome 1
Cardiomyopathy, dilated, 1E
Sick sinus syndrome 1, autosomal recessive
Heart block, nonprogressive
Heart block, progressive, type IA
Idiopathic ventricular fibrillation
Long QT syndrome 3
Atrial fibrillation, familial 10
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies
SETD2 Luscan-Lumish syndrome
SETD5 Mental retardation, autosomal dominant 23
SI Sucrase-isomaltase deficiency, congenital
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC2A2 Neonatal diabetes mellitus
Glycogen storage disease XI
Fanconi-Bickel syndrome
SLC6A20 Hyperglycinuria/Iminoglycinuria, modifier of
Iminoglycinuria, digenic
SLC9A9 Autism susceptibility 16
SPATA16 Spermatogenic failure 6
STT3B Congenital disorder of glycosylation, type Ix
SUMF1 Multiple sulfatase deficiency
TDGF1 Congenital cardiac malformations
Forebrain anomalies
TF Atransferrinemia
TFRC Immunodeficiency 46
TMEM43 Emery-Dreifuss muscular dystrophy 7
Arrhythmogenic right ventricular dysplasia 5
TRAIP Seckel syndrome 9
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
UMPS Orotic aciduria
UROC1 Urocanase deficiency
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 7403
Number of Genes: 521

Export to: CSV

A4GNT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2246945
dbSNP
137843476 1460.77 G T . 0/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65375 0.65380 0.33946 0.93 0.00 None None None None None None None
View mm170241ct 3 rs2170309
dbSNP
137843106 595.77 T C . 0/1 44 SYNONYMOUS_STOP LOW SILENT 0.65415 0.65420 0.33931 None None None None None None None
View mm170241ct 3 rs2724691
dbSNP
137850003 1407.77 A G . 0/1 102 SYNONYMOUS_CODING LOW SILENT 0.61402 0.61400 0.35399 None None None None None None None

AADAC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1803155
dbSNP
151545601 4542.77 G A . 0/1 291 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73443 0.73440 0.22189 0.04 0.16 None None None None None None None

AADACL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1972977
dbSNP
151463421 4354.77 G T . 1/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70667 0.70670 0.30183 1.00 0.00 None None None None None None None

ABHD10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs17429033
dbSNP
111710398 4511.77 A G . 0/1 273 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02696 0.02696 0.04867 1.00 0.00 None None None None None None None

ABI3BP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs34999788
dbSNP
100617668 773.77 G T . 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.05391 0.05391 0.10809 None None None None None None None
View mm170241ct 3 rs2245370
dbSNP
100617680 639.77 C T . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.72804 0.72800 0.43846 None None None None None None None

ABTB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs35703629
dbSNP
127394820 29.77 C T LowQual 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.11522 0.11520 0.16818 None None None None None None None

AC022498.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs13096615
dbSNP
187897059 1389.77 G A . 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55212 0.55210 0.47394 0.00 None None None None None None None

ACAD11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs821572
dbSNP
132360883 3924.77 C T . 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

ACAD9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1680778
dbSNP
128614185 624.77 A C . 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.54333 0.54330 0.45025 None None None None None None None

ACAP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs6437374
dbSNP
195076877 1566.77 C G . 0/1 112 None None None 0.44449 0.44450 0.03 0.00 None None None None None None None

ACKR2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2228468
dbSNP
42907112 1553.77 A C . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00679 0.44110 0.34753 0.63 0.00 None None None None None None None

ACPL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs3210458
dbSNP
141011630 2515.77 C T . 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.10004 0.10000 0.08412 None None None None None None None

ACPP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2071505
dbSNP
132075707 1389.77 A G . 0/1 77 None None None 0.39617 0.39620 0.49946 None None None None None None None
View mm170241ct 3 rs2228402
dbSNP
132068831 1061.77 C T . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.39557 0.39560 0.49969 None None None None None None None

ACTL6A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1132429
dbSNP
179298999 4346.77 C T . 0/1 319 SYNONYMOUS_CODING LOW SILENT 0.68051 0.68050 0.39751 None None None None None None None

ACTR8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs3733082
dbSNP
53914093 829.77 G A . 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10743 0.10740 0.05621 0.40 0.05 None None None None None None None
View mm170241ct 3 rs1046677
dbSNP
53905308 2563.77 T C . 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.69229 0.69230 0.48116 None None None None None None None
View mm170241ct 3 rs4687757
dbSNP
53906513 3838.77 G A . 1/1 111 SYNONYMOUS_CODING LOW SILENT 0.69030 0.69030 0.48293 None None None None None None None

ACVR2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1046048
dbSNP
38524742 624.77 C T . 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.35324 0.35320 0.43857 None None None None None None None
View mm170241ct 3 rs2070489
dbSNP
38519424 587.77 A G . 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.48043 0.48040 0.47724 None None None None None None None

ADAMTS9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs36115950
dbSNP
64672474 335.77 A T . 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.09972 0.43 0.01 None None None None None None None

ADCY5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs4678027
dbSNP
123167249 313.78 G A . 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.98662 0.98660 0.00873 None None None None None None None
View mm170241ct 3 . 123023016 20.8 T G LowQual 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADPRH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs20568
dbSNP
119301139 2083.77 C T . 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.14637 0.14640 0.07297 None None None None None None None
View mm170241ct 3 rs25676
dbSNP
119305379 2020.77 T A . 1/1 55 SYNONYMOUS_CODING LOW SILENT 0.41234 0.41230 0.32962 None None None None None None None

AGTR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs5183
dbSNP
148459884 3072.77 A G . 0/1 225 SYNONYMOUS_CODING LOW SILENT 0.10683 0.10680 0.12348 None None None None None None None

ALCAM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs599278
dbSNP
105260596 5792.77 T C . 1/1 155 SYNONYMOUS_CODING LOW SILENT 0.96086 0.96090 0.03814 None None None None None None None
View mm170241ct 3 rs16851279
dbSNP
105266274 1758.77 T C . 0/1 156 SYNONYMOUS_CODING LOW SILENT 0.13998 0.14000 0.09669 None None None None None None None

ALDH1L1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1127717
dbSNP
125826059 2107.77 T C . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19808 0.19810 0.21490 0.13 0.01 None None None None None None None
View mm170241ct 3 rs2305230
dbSNP
125856695 759.77 C A . 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.24481 0.24480 0.24058 None None None None None None None
View mm170241ct 3 rs2886059
dbSNP
125865766 516.77 C A . 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23722 0.23720 0.23059 0.00 0.04 None None None None None None None
View mm170241ct 3 rs2276724
dbSNP
125854409 1545.77 T C . 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15435 0.15440 0.15208 0.02 0.10 None None None None None None None

ALS2CL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs7642448
dbSNP
46729757 319.77 C G . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44848 0.44850 0.42134 0.19 0.91 None None None None None None None
View mm170241ct 3 rs34935085
dbSNP
46727909 226.77 C A . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.04573 0.04573 0.04383 None None None None None None None
View mm170241ct 3 rs7625303
dbSNP
46713457 387.77 C G . 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.25040 0.25040 0.19768 None None None None None None None

ANKRD28

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2470548
dbSNP
15737689 6590.77 G A . 1/1 184 SYNONYMOUS_CODING LOW SILENT 0.46925 0.46920 0.45701 None None None None None None None
View mm170241ct 3 rs2470549
dbSNP
15737698 6667.77 T C . 1/1 183 SYNONYMOUS_CODING LOW SILENT 0.41294 0.41290 0.47133 None None None None None None None

ANKUB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs954714
dbSNP
149479301 6480.77 C T . 1/1 192 SYNONYMOUS_CODING LOW SILENT 0.52057 0.52060 None None None None None None None
View mm170241ct 3 rs75077284
dbSNP
149484970 1512.77 G A . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.01677 0.01677 0.04227 None None None None None None None
View mm170241ct 3 rs7610425
dbSNP
149485293 1953.77 T C . 0/1 145 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26478 0.26480 0.33969 0.31 0.00 None None None None None None None

ANO10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs3772165
dbSNP
43602803 1661.77 C T . 0/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66314 0.66310 0.44310 0.54 0.00 None None None None None None None
View mm170241ct 3 rs6441771
dbSNP
43414318 1008.77 A G . 1/1 28 None None None 0.98143 0.98140 0.33 0.01 None None None None None None None

AP2M1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs843365
dbSNP
183900729 2104.77 T C . 1/1 65 None None None 0.52875 0.52880 0.50 0.00 None None None None None None None
View mm170241ct 3 rs843366
dbSNP
183900680 1758.77 G C . 1/1 50 None None None 0.34185 0.34190 0.27921 0.58 0.00 None None None None None None None

ARGFX

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs9813391
dbSNP
121304933 1143.77 G A . 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17113 0.17110 0.22943 0.77 0.00 None None None None None None None

ARHGAP31

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs61740281
dbSNP
119133554 919.77 G A . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.12979 0.12980 0.12711 None None None None None None None
View mm170241ct 3 rs3732413
dbSNP
119133183 2051.77 G A . 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84565 0.84560 0.16839 1.00 0.00 None None None None None None None
View mm170241ct 3 rs4688001
dbSNP
119118104 6108.77 A G . 1/1 182 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None

ARHGEF26

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs12497267
dbSNP
153839960 2170.77 T C . 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94968 0.94970 0.15953 0.71 0.00 None None None None None None None
View mm170241ct 3 rs12493885
dbSNP
153839866 1824.77 G C . 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95927 0.95930 0.10090 1.00 0.00 None None None None None None None
View mm170241ct 3 rs59508481
dbSNP
153839959 2150.77 C T . 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61801 0.61800 0.02696 0.13 0.01 None None None None None None None

ARHGEF3

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs3732511
dbSNP
56766435 679.77 C G . 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.25659 0.25660 0.15470 None None None None None None None
View mm170241ct 3 rs3772219
dbSNP
56771251 595.77 A C . 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41474 0.41470 0.37829 0.07 0.09 None None None None None None None
View mm170241ct 3 rs1565377
dbSNP
56763328 1759.77 T C . 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.72844 0.72840 0.44687 None None None None None None None
View mm170241ct 3 rs1565376
dbSNP
56763316 1828.77 G A . 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.73023 0.73020 0.44410 None None None None None None None
View mm170241ct 3 rs1009118
dbSNP
56763525 1334.77 A G . 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.26697 0.26700 0.18484 None None None None None None None
View mm170241ct 3 rs6765444
dbSNP
56763619 1257.77 A G . 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.26697 0.26700 0.18476 None None None None None None None

ARPP21

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs138398652
dbSNP
35770896 607.77 C G . 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00146 0.08 0.00 None None None None None None None
View mm170241ct 3 rs969818
dbSNP
35725250 968.77 C T . 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.71985 0.71980 0.28737 None None None None None None None

ATG3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs35560667,rs570214747,rs397767079
dbSNP
112253058 5971.74 C CA . 0/1 235 None None None 0.58390 None None None None None None None

ATG7

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs8154
dbSNP
11596302 1161.77 T C . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.25459 0.25460 0.32239 None None None None None None None

ATP13A4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2130407
dbSNP
193210768 420.77 A G . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.52736 0.52740 0.47970 None None None None None None None
View mm170241ct 3 rs6788448
dbSNP
193209178 2823.77 T C . 0/1 198 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47145 0.47140 0.44180 0.04 0.99 None None None None None None None
View mm170241ct 3 rs3796181
dbSNP
193183817 991.77 A G . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.55411 0.55410 0.48954 None None None None None None None

ATP13A5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs6788770
dbSNP
193036794 1273.77 G C . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.89597 0.89600 0.15124 None None None None None None None
View mm170241ct 3 rs6797429
dbSNP
193080414 1412.77 C G . 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51378 0.51380 0.44895 1.00 0.00 None None None None None None None
View mm170241ct 3 rs12637558
dbSNP
193081122 1502.77 G T . 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41594 0.41590 0.36998 0.04 0.98 None None None None None None None
View mm170241ct 3 rs2271791
dbSNP
192994543 499.77 A G . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33227 0.33230 0.36906 0.11 0.04 None None None None None None None
View mm170241ct 3 rs2280268
dbSNP
193031926 819.77 C T . 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53075 0.53080 0.46094 0.44 0.26 None None None None None None None
View mm170241ct 3 rs73888252
dbSNP
193036783 519.77 G A . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20587 0.20590 0.15501 0.10 0.09 None None None None None None None
View mm170241ct 3 rs11926955
dbSNP
193042776 1831.77 T C . 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.89537 0.89540 0.15178 None None None None None None None

ATP2B2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs35678
dbSNP
10379923 392.77 C T . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.56789 0.56790 0.45633 None None None None None None None

ATR

Omim - GeneCards - NCBI
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View mm170241ct 3 rs28910270
dbSNP
142275353 2101.77 C T . 0/1 145 SYNONYMOUS_CODING LOW SILENT 0.01837 0.01837 0.02045 None None None None None None None
View mm170241ct 3 rs2227931
dbSNP
142222284 1138.77 A G . 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.31250 0.31250 0.34957 None None None None None None None
View mm170241ct 3 rs28897765
dbSNP
142280108 3311.77 T C . 0/1 225 SYNONYMOUS_CODING LOW SILENT 0.01877 0.01877 0.02084 None None None None None None None
View mm170241ct 3 rs28897764
dbSNP
142281298 2180.77 C T . 0/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01837 0.01837 0.02038 0.25 0.03 None None None None None None None
View mm170241ct 3 rs2227928
dbSNP
142281612 5948.77 A G . 1/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59744 0.59740 0.33769 0.63 0.00 None None None None None None None
View mm170241ct 3 rs1802904
dbSNP
142168331 10062.77 C T . 1/1 278 SYNONYMOUS_CODING LOW SILENT 0.91633 0.91630 0.10218 None None None None None None None
View mm170241ct 3 rs112018640
dbSNP
142215233 414.77 G A . 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.01837 0.01837 0.02053 None None None None None None None
View mm170241ct 3 rs2227930
dbSNP
142277575 32738.77 A T . 1/1 2081 SYNONYMOUS_CODING LOW SILENT 0.59804 0.59800 0.33700 None None None None None None None
View mm170241ct 3 rs28910271
dbSNP
142269075 2835.77 C T . 0/1 232 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01877 0.01877 0.02061 0.29 0.00 None None None None None None None
View mm170241ct 3 rs2227929
dbSNP
142277536 21661.77 A G . 0/1 1989 SYNONYMOUS_CODING LOW SILENT 0.31070 0.31070 0.34576 None None None None None None None
View mm170241ct 3 rs28910272
dbSNP
142268372 742.77 C T . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.01877 0.01877 0.01914 None None None None None None None

ATXN7

Omim - GeneCards - NCBI
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View mm170241ct 3 rs1053338
dbSNP
63967900 1204.77 A G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11462 0.11460 0.09994 0.12 0.21 None None None None None None None
View mm170241ct 3 rs3774729
dbSNP
63982082 1422.77 G A . 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43770 0.43770 0.39069 1.00 0.02 None None None None None None None

B4GALT4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs3764779
dbSNP
118945796 3138.77 G C . 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29693 0.29690 0.27157 0.78 0.00 None None None None None None None

BCL6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1056932
dbSNP
187447032 1457.77 G A . 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.56530 0.56530 0.49739 None None None None None None None

BFSP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs79087781
dbSNP
133191385 231.77 C A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03335 0.03335 0.04014 0.04 0.81 None None None None None None None

BSN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs4855885
dbSNP
49690199 958.77 G A . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.91354 0.91350 0.16100 None None None None None None None
View mm170241ct 3 rs115552063
dbSNP
49679826 554.77 G A . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.00619 0.00619 0.01085 None None None None None None None
View mm170241ct 3 rs2005557
dbSNP
49701298 374.77 G A . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64038 0.64040 0.48793 0.02 None None None None None None None

BTD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2019160
dbSNP
15643043 3713.77 A G . 1/1 105 None None None 0.96805 0.96810 None None None None None None None

BTLA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2931761
dbSNP
112190137 2621.77 G T . 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98822 0.98820 0.00938 1.00 0.00 None None None None None None None
View mm170241ct 3 rs9288952
dbSNP
112185025 5120.77 G A . 1/1 147 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64457 0.64460 0.26634 0.69 0.00 None None None None None None None

C3orf17

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs2306857
dbSNP
112727184 3151.77 A T . 0/1 210 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49621 0.49620 0.38659 0.12 0.04 None None None None None None None

C3orf18

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs1034405
dbSNP
50597092 2551.77 G A . 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83267 0.83270 0.18894 0.00 1.00 None None None None None None None

C3orf20

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs6765537
dbSNP
14755572 329.77 A G . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37820 0.37820 0.42580 0.11 0.13 None None None None None None None