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Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADO, ADRA2A, ADRB1, AFAP1L2, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL133481.1, AL162407.1, AL359195.1, AL359878.1, AL450307.1, ALDH18A1, ANK3, ANKRD16, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ARMS2, ASAH2C, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BLNK, BMPR1A, BTBD16, C10ORF68, C10orf10, C10orf107, C10orf11, C10orf113, C10orf115, C10orf12, C10orf128, C10orf129, C10orf2, C10orf25, C10orf35, C10orf53, C10orf54, C10orf62, C10orf67, C10orf71, C10orf90, CALHM1, CALHM3, CALML5, CAMK1D, CASP7, CC2D2B, CCAR1, CCDC147, CCDC3, CCDC6, CCDC7, CCSER2, CDH23, CDHR1, CELF2, CEP55, CH25H, CHAT, CHUK, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CSGALNACT2, CTBP2, CTNNA3, CUBN, CUEDC2, CUTC, CYP17A1, CYP26C1, CYP2C19, CYP2C8, CYP2E1, DCLRE1A, DDX50, DHTKD1, DHX32, DIP2C, DLG5, DMBT1, DNAJB12, DNTT, DOCK1, DPYSL4, DUSP13, DUSP5, DYDC2, EBLN1, ECHDC3, ECHS1, EGR2, EIF3A, EIF4EBP2, ENO4, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, FAM170B, FAM171A1, FAM175B, FAM178A, FAM196A, FAM208B, FAM21B, FAM24B, FAM35A, FAM45A, FANK1, FAS, FGFBP3, FGFR2, FRA10AC1, FRG2B, FRMPD2, FZD8, GAD2, GBF1, GDI2, GFRA1, GLRX3, GPAM, GPR123, GPR158, GPR26, GPRIN2, GSTO1, GSTO2, GTPBP4, HABP2, HECTD2, HELLS, HK1, HKDC1, HNRNPH3, HPS1, HPS6, HPSE2, HTR7, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, INPP5A, INPP5F, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KCNK18, KCNMA1, KIAA1217, KIAA1279, KIAA1462, KNDC1, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPK, LIPN, LOXL4, LRIT1, LRRC18, LRRC27, LYZL1, LYZL2, MALRD1, MAP3K8, MARVELD1, MASTL, MAT1A, MBL2, MEIG1, METTL10, MKI67, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRC1, MSS51, MTG1, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NKX1-2, NKX2-3, NKX6-2, NOC3L, NODAL, NPS, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, OBFC1, OGDHL, OLAH, OPN4, OPTN, PALD1, PAOX, PARD3, PBLD, PCDH15, PDCD11, PDCD4, PDE6C, PDZD7, PDZD8, PFKFB3, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PITRM1, PITX3, PKD2L1, PLAC9, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRAP1, PRDX3, PRF1, PRLHR, PRPF18, PRR26, PSTK, PTCHD3, PTF1A, PTPLA, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RBM20, RET, RGR, RNLS, RPP38, RPS24, RRP12, RSU1, RTKN2, RUFY2, SCD, SEC23IP, SEC31B, SEC61A2, SEMA4G, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN4, SGPL1, SH2D4B, SH3PXD2A, SLC16A9, SLC18A2, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SNCG, SORBS1, SORCS1, SORCS3, SPRN, SRGN, STK32C, STOX1, SUFU, SVIL, SYT15, TACC2, TACR2, TAF3, TBATA, TBC1D12, TCERG1L, TCTN3, TECTB, TET1, TEX36, THNSL1, TIMM23, TLL2, TM9SF3, TMEM180, TRDMT1, TTC40, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, UTF1, VENTX, VSTM4, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WDR96, WNT8B, ZDHHC6, ZFYVE27, ZMIZ1, ZMYND11, ZNF239, ZNF248, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF487, ZNF488, ZNF511, ZRANB1, ZWINT,

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALDH18A1, ANK3, ANKRD26, ARMC4, BAG3, BICC1, BLNK, BMPR1A, C10orf11, C10orf2, CDH23, CDHR1, CHAT, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C8, DHTKD1, ECHS1, EGR2, ERCC6, ERLIN1, FAS, FGFR2, HABP2, HELLS, HK1, HPS1, HPS6, HPSE2, ITGA8, KCNK18, KCNMA1, KIAA1279, LGI1, LIPA, LIPN, MAP3K8, MASTL, MAT1A, MBL2, MMP21, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLCE1, PNLIP, PRF1, PTF1A, RBM20, RET, RGR, RPS24, SFTPA1, SFTPA2, SFXN4, SLC29A3, SMC3, STOX1, SUFU, TCTN3, WDR11, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
Obesity, hyperphagia, and developmental delay (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK Agammaglobulinemia 4, 613502 (3)
BMPR1A Juvenile polyposis syndrome, infantile form, 174900 (3)
Polyposis syndrome, hereditary mixed, 2, 610069 (3)
Polyposis, juvenile intestinal, 174900 (3)
C10orf11 Albinism, oculocutaneous, type VII, 615179 (3)
C10orf2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Perrault syndrome 5, 616138 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHUK Cocoon syndrome, 613630 (3)
CNNM2 Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8 Rhabdomyolysis, cerivastatin-induced (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, congenital hypomyelinating, 1, 605253 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to 5}, 613761 (3)
ERLIN1 Spastic paraplegia 62, 615681 (3)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Gastric cancer, somatic, 613659 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
HABP2 {?Thyroid cancer, nonmedullary, 5}, 616535 (3)
{Venous thromboembolism, susceptibility to}, 188050 (3)
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
HPS1 Hermansky-Pudlak syndrome 1, 203300 (3)
HPS6 Hermansky-Pudlak syndrome 6, 614075 (3)
HPSE2 Urofacial syndrome 1, 236730 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KCNK18 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA Cholesteryl ester storage disease, 278000 (3)
Wolman disease, 278000 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MASTL ?Thrombocytopenia-2, 188000 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
NT5C2 Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
{Glaucoma, normal tension, susceptibility to}, 606657 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment mesenchymal dysgenesis, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, 610623 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP Pancreatic lipase deficiency, 614338 (1)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RGR Retinitis pigmentosa 44, 613769 (3)
RPS24 Diamond-blackfan anemia 3, 610629 (3)
SFTPA1 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
Medulloblastoma, desmoplastic, 155255 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
TCTN3 Joubert syndrome 18, 614815 (3)
Orofaciodigital syndrome IV, 258860 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ADRB1, AKR1C2, ALDH18A1, ANKRD26, ARMC4, BAG3, BICC1, BLNK, BMPR1A, CDH23, CDHR1, CHAT, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, DHTKD1, ECHS1, EGR2, ERCC6, ERLIN1, FAS, FGFR2, HABP2, HELLS, HK1, HPS1, HPS6, HPSE2, ITGA8, KCNK18, KCNMA1, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MMP21, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLCE1, PRF1, PTF1A, RBM20, RET, RGR, RPS24, SFTPA2, SFXN4, SLC29A3, SMC3, SUFU, TCTN3, WDR11, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
AKR1C2 46,XY sex reversal 8
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Myopathy, myofibrillar 6
Cardiomyopathy, dilated, 1HH
BICC1 Renal dysplasia, cystic, susceptibility to
BLNK Agammaglobulinemia 4
BMPR1A Polyposis, juvenile intestinal
Polyposis syndrome, hereditary mixed, 2
CDH23 Usher syndrome, type 1D /F digenic
Usher syndrome, type 1D
Deafness, autosomal recessive 12
CDHR1 Retinitis pigmentosa 65
Cone-rod dystrophy 15
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHUK Cocoon syndrome
CNNM2 Hypomagnesemia 6 ,renal
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epidermolysis bullosa, junctional, non-Herlitz type
Epithelial recurrent erosion dystrophy (ERED)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Leigh syndrome
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN Megaloblastic anemia-1, Finnish type
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1 Focal facial dermal dysplasia 4
CYP2C19 Drug metabolism, CYP2C19-related
CYP2C8 Rhabdomyolysis, cerivastatin-induced
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Dejerine-Sottas disease
Neuropathy, congenital hypomyelinating, 1
Charcot-Marie-Tooth disease, demyelinating, type 1D
ERCC6 Premature ovarian failure 11 (AD)
De Sanctis-Cacchione syndrome
Xeroderma Pigmentosum-Cockayne Syndrome
ERLIN1 Spastic paraplegia 62, autosomal recessive
FAS Autoimmune lymphoproliferative syndrome, type IA
FGFR2 Beare-Stevenson cutis gyrata syndrome
Apert syndrome
Pfeiffer syndrome
Jackson-Weiss syndrome
Crouzon syndrome
Sraniofacial-skeletal-dermatological dysplasia
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Lacrimoauriculodentodigital syndrome
HABP2 Thyroid cancer, nonmedullary 5
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
HPSE2 Urofacial syndrome 1
Ochoa syndrome
ITGA8 Renal agenesis, bilateral
KCNK18 Migraine, with or without aura, susceptibility to, 13
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
LGI1 Epilepsy, familial temporal lobe, 1
LIPA Wolman disease
Cholesterol ester storage disease
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MMP21 Heterotaxy, visceral, 7
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, familial restrictive, 4
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, dilated, 1KK
NEUROG3 Diarrhea 4, malabsorptive, congenital
NFKB2 Immunodeficiency, common variable, 10
NODAL Heterotaxy, visceral, 5
NT5C2 Spastic paraplegia 45
OPTN Glaucoma 1, open angle, E
Glaucoma, normal tension, susceptibility to
PCDH15 Usher syndrome, type 1D/F, digenic
Usher syndrome, type 1F
Deafness, autosomal recessive 23
PDE6C Cone dystrophy 4
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Anterior segment mesenchymal dysgenesis
Cataract, posterior polar 4, syndromic
Cataract, congenital
Cataract, posterior polar, 4
PLCE1 Nephrotic syndrome, type 3
PRF1 Aplastic anemia, adult-onset
Lymphoma, non-Hodgkin
Hemophagocytic lymphohistiocytosis, familial, 2
PTF1A Pancreatic agenesis 2
Pancreatic and cerebellar agenesis
RBM20 Cardiomyopathy, dilated, 1DD
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
RGR Retinitis pigmentosa 44
RPS24 Diamond-Blackfan anemia 3
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SUFU Basal cell nevus syndrome
Medulloblastoma
TCTN3 Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
Joubert syndrome 18
WDR11 Kallmann syndrome
Hypogonadotropic hypogonadism
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 5780
Number of Genes: 384

Export to: CSV

ABCC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs113646094
dbSNP
101564012 634.77 C G . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.00319 0.00320 0.01107 None None None None None None None
View mm170241ct 10 rs2273697
dbSNP
101563815 862.77 G A . 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18650 0.18650 0.19214 0.15 0.04 None None None None None None None
View mm170241ct 10 rs927344
dbSNP
101544447 3398.77 A T . 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99461 0.99460 0.00654 1.00 0.00 None None None None None None None

ABLIM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs2247528
dbSNP
116307504 827.77 A G . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.78315 0.78310 0.20821 None None None None None None None
View mm170241ct 10 rs985273
dbSNP
116335246 661.77 G A . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.30451 0.30450 0.26695 None None None None None None None

ACADSB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs34221067
dbSNP
124793997 1513.77 A G . 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.01737 0.01737 0.01838 None None None None None None None
View mm170241ct 10 rs12263012
dbSNP
124768583 37.77 G A . 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20607 0.20610 0.27423 0.96 0.01 None None None None None None None

ACBD5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs10764690
dbSNP
27508758 2180.77 T C . 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.31789 0.31790 0.39382 None None None None None None None
View mm170241ct 10 rs7918793
dbSNP
27497191 900.77 G A . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07288 0.07288 0.05951 0.05 0.18 None None None None None None None

ADAM12

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 10 rs1278279
dbSNP
127753478 211.77 G A . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.30272 0.30270 0.25427 None None None None None None None

ADAM8

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 10 rs1131718
dbSNP
135085754 264.77 G A . 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.88359 0.88360 0.12098 None None None None None None None
View mm170241ct 10 rs2275725
dbSNP
135089035 322.77 A G . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90316 0.90320 0.09083 1.00 0.00 None None None None None None None
View mm170241ct 10 rs3008326
dbSNP
135087521 422.77 G A . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.72424 0.72420 0.28998 None None None None None None None
View mm170241ct 10 rs1131719
dbSNP
135085426 418.77 A G . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.91893 0.91890 0.08042 None None None None None None None
View mm170241ct 10 rs2275720
dbSNP
135082346 567.77 A G . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82428 0.82430 0.19900 0.68 0.01 None None None None None None None
View mm170241ct 10 rs1131720
dbSNP
135085321 377.77 C T . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.84665 0.84660 0.15147 None None None None None None None

ADAMTS14

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 10 rs10823607
dbSNP
72500763 1105.77 T C . 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79992 0.79990 0.19168 0.32 0.00 None None None None None None None
View mm170241ct 10 rs2587475
dbSNP
72513682 336.77 C T . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.52516 0.52520 0.45384 None None None None None None None
View mm170241ct 10 rs10999516
dbSNP
72517830 572.77 G A . 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21346 0.21350 0.16554 0.14 0.40 None None None None None None None
View mm170241ct 10 rs4747096
dbSNP
72518009 515.77 A G . 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21805 0.21810 0.17046 1.00 0.00 None None None None None None None
View mm170241ct 10 rs41307534
dbSNP
72489891 269.77 C T . 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.00280 0.00277 0.00 0.99 None None None None None None None
View mm170241ct 10 rs10999500
dbSNP
72500863 1311.77 C G . 1/1 41 SYNONYMOUS_CODING LOW SILENT 0.66713 0.66710 0.38190 None None None None None None None
View mm170241ct 10 rs10999502
dbSNP
72503344 627.77 G A . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.31150 0.31150 0.19868 None None None None None None None
View mm170241ct 10 rs12774070
dbSNP
72513635 385.77 C A . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16014 0.16010 0.19512 0.01 0.93 None None None None None None None

ADARB2

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 10 rs2271275
dbSNP
1230968 320.78 C T . 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54313 0.54310 0.43947 0.25 0.02 None None None None None None None

ADO

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 10 rs10995311
dbSNP
64564934 371.77 C G . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24541 0.24540 0.30918 0.16 0.02 None None None None None None None

ADRA2A

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 10 rs1800038
dbSNP
112838892 842.77 C A . 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.13199 0.13200 0.02968 None None None None None None None

ADRB1

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 10 rs1801253
dbSNP
115805056 2167.77 G C . 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70168 0.70170 0.30033 1.00 0.00 None None None None None None None

AFAP1L2

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 10 rs142552824
dbSNP
116082985 1087.77 C T . 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00031 None None None None None None None
View mm170241ct 10 rs2781806
dbSNP
116060427 1050.77 G C . 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04732 0.04732 0.04529 0.90 0.00 None None None None None None None
View mm170241ct 10 rs74928179
dbSNP
116085784 1343.73 C CCCG . 0/1 57 CODON_INSERTION MODERATE None None None None None None None
View mm170241ct 10 rs621375
dbSNP
116073801 725.77 T C . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.35443 0.35440 0.34307 None None None None None None None
View mm170241ct 10 rs2286396
dbSNP
116060387 738.77 T C . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.64157 0.64160 0.31855 None None None None None None None
View mm170241ct 10 rs73365341
dbSNP
116064528 135.77 G A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10603 0.10600 0.12527 0.14 1.00 None None None None None None None

AIFM2

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 10 rs2394656
dbSNP
71876382 128.77 C T . 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.60064 0.60060 0.32316 None None None None None None None

AKR1C1

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 10 rs1138600
dbSNP
5010572 2272.77 A G . 1/1 205 SYNONYMOUS_CODING LOW SILENT 0.99720 0.99720 None None None None None None None

AKR1C2

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 10 rs3207909
dbSNP
5041398 1571.77 T C . 0/1 219 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AKR1C3

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 10 rs12387
dbSNP
5139685 5492.77 G A . 1/1 161 SYNONYMOUS_CODING LOW SILENT 0.84824 0.84820 0.15693 None None None None None None None
View mm170241ct 10 rs4881396
dbSNP
5120157 5028.77 G T . 1/1 147 None None None 0.87201 0.87200 0.71 0.00 None None None None None None None
View mm170241ct 10 rs12529
dbSNP
5136651 2206.77 C G . 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57967 0.57970 0.43002 0.40 0.00 None None None None None None None

AKR1C4

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 10 rs4880718
dbSNP
5255025 1378.77 A G . 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 1.00 0.00 None None None None None None None

AKR1CL1

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 10 rs2801889
dbSNP
5202104 74.28 C T . 1/1 3 None None None 0.97764 0.97760 1.00 0.00 None None None None None None None
View mm170241ct 10 rs1781935
dbSNP
5199934 1656.77 G C . 1/1 51 None None None 0.60204 0.60200 0.01 0.84 None None None None None None None
View mm170241ct 10 rs2151896
dbSNP
5244441 1769.77 A G . 1/1 52 None None None 0.56110 0.56110 None None None None None None None

AL133481.1

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 10 rs11516648
dbSNP
81267249 530.77 G A . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01498 0.01498 0.06 0.00 None None None None None None None
View mm170241ct 10 rs11516649
dbSNP
81267463 761.77 T G . 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.01677 0.01677 None None None None None None None
View mm170241ct 10 rs11510994
dbSNP
81267401 613.77 A G . 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03055 0.03055 0.73 0.00 None None None None None None None

AL162407.1

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 10 rs7895609
dbSNP
115675025 2570.77 G A . 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.74621 0.74620 None None None None None None None

AL359195.1

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 10 rs12773664
dbSNP
82012954 2006.77 A G . 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40895 0.40890 0.80 0.07 None None None None None None None
View mm170241ct 10 rs2573326
dbSNP
82013146 4243.77 T C . 1/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59844 0.59840 1.00 0.00 None None None None None None None
View mm170241ct 10 rs1298908
dbSNP
82013134 3806.77 C T . 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58926 0.58930 0.24 0.00 None None None None None None None

AL359878.1

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 10 rs4880745
dbSNP
1018585 2804.77 T G . 0/1 187 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58706 0.58710 0.41 None None None None None None None

AL450307.1

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 10 rs4897742
dbSNP
133608291 319.77 T G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50559 0.50560 0.01 None None None None None None None
View mm170241ct 10 rs4897743
dbSNP
133608292 217.77 T G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50539 0.50540 0.00 None None None None None None None
View mm170241ct 10 rs4897741
dbSNP
133608210 315.77 A G . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58526 0.58530 0.00 None None None None None None None
View mm170241ct 10 rs4897781
dbSNP
133607904 12.77 G A LowQual 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58367 0.58370 0.00 None None None None None None None
View mm170241ct 10 rs4897783
dbSNP
133608237 355.77 G A . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50619 0.50620 0.83 None None None None None None None

ALDH18A1

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 10 rs11541780
dbSNP
97373754 1466.77 G A . 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.01797 0.01797 0.03460 None None None None None None None

ANK3

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 10 rs3750800
dbSNP
61868716 2132.77 C A . 1/1 61 SYNONYMOUS_CODING LOW SILENT 0.17911 0.17910 0.23958 None None None None None None None
View mm170241ct 10 rs10740006
dbSNP
61831744 2935.77 A G . 0/1 208 SYNONYMOUS_CODING LOW SILENT 0.12600 0.12600 0.19053 None None None None None None None
View mm170241ct 10 rs10821668
dbSNP
61831271 2634.77 T C . 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12580 0.12580 0.18991 0.96 None None None None None None None

ANKRD16

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 10 rs631947
dbSNP
5925971 3566.77 C A . 1/1 104 SYNONYMOUS_CODING LOW SILENT 0.92252 0.92250 0.08435 None None None None None None None
View mm170241ct 10 rs1052420
dbSNP
5920121 2057.77 T C . 1/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80391 0.80390 0.17846 0.33 0.01 None None None None None None None

ANKRD22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs7893917
dbSNP
90585819 1090.77 G A . 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.34125 0.34130 0.32816 None None None None None None None

ANKRD26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs7897309
dbSNP
27389197 566.77 T C . 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94469 0.94470 0.10655 1.00 0.00 None None None None None None None

ANKRD30A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs1148259
dbSNP
37508450 2765.77 A C . 0/1 218 SYNONYMOUS_CODING LOW SILENT 0.53355 0.53350 0.40857 None None None None None None None
View mm170241ct 10 rs34552277
dbSNP
37505159 1343.77 G A . 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22764 0.22760 0.28179 0.16 0.81 None None None None None None None
View mm170241ct 10 rs57914746
dbSNP
37505179 1354.77 T C . 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.15875 0.15870 0.21071 None None None None None None None
View mm170241ct 10 rs200315308
dbSNP
37433975 2709.77 T G . 0/1 238 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.00 None None None None None None None
View mm170241ct 10 rs200974283
dbSNP
37433982 2356.77 C G . 0/1 207 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00020 0.25 0.05 None None None None None None None
View mm170241ct 10 rs200164455
dbSNP
37433983 2268.77 G T . 0/1 208 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.19 0.05 None None None None None None None
View mm170241ct 10 rs1209750
dbSNP
37488689 6520.77 G C . 0/1 513 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48223 0.48220 0.40331 0.27 0.00 None None None None None None None
View mm170241ct 10 rs202149101
dbSNP
37433929 2721.77 G T . 0/1 256 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.00 None None None None None None None

ANTXRL

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 10 rs10906952
dbSNP
47701275 579.77 G A . 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.27596 0.27600 None None None None None None None
View mm170241ct 10 rs7091749
dbSNP
47701302 2146.77 G C . 1/1 64 SYNONYMOUS_CODING LOW SILENT 0.01078 0.80850 None None None None None None None
View mm170241ct 10 rs4409768
dbSNP
47668707 332.77 T C . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.34305 0.34310 None None None None None None None
View mm170241ct 10 rs61845226
dbSNP
47669277 59.77 C G . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34285 0.34290 0.14 0.88 None None None None None None None

ARHGAP12

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 10 rs2808100
dbSNP
32120678 2055.77 C T . 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.24181 0.24180 0.17105 None None None None None None None
View mm170241ct 10 rs2808096
dbSNP
32128611 723.77 A G . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23183 0.23180 0.16877 0.49 0.00 None None None None None None None
View mm170241ct 10 rs2799021
dbSNP
32141460 2577.77 T C . 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.23183 0.23180 0.16892 None None None None None None None

ARHGAP19

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 10 rs2253301
dbSNP
99019177 4410.77 A G . 1/1 138 SYNONYMOUS_CODING LOW SILENT 0.84445 0.84440 0.10049 None None None None None None None

ARHGAP21

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs3748222
dbSNP
24908686 1643.77 T C . 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43830 0.43830 0.49047 1.00 0.01 None None None None None None None
View mm170241ct 10 rs1127893,rs79588196
dbSNP
24873369 2270.77 C G . 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.49260 0.49347 0.32 0.00 None None None None None None None
View mm170241ct 10 rs10734053
dbSNP
24879281 5598.77 A G . 1/1 165 None None None 1.00000 1.00000 None None None None None None None

ARHGAP22

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 10 rs7089439
dbSNP
49732141 17.84 C T LowQual 0/1 16 None None None 0.23063 0.23060 None None None None None None None
View mm170241ct 10 rs3853761
dbSNP
49667795 1029.77 T C . 1/1 30 SYNONYMOUS_CODING LOW SILENT 0.90196 0.90200 0.10449 None None None None None None None
View mm170241ct 10 rs10776601
dbSNP
49659559 1879.77 C T . 1/1 58 None None None 0.79193 0.79190 0.68 0.00 None None None None None None None
View mm170241ct 10 rs3827681
dbSNP
49659637 653.77 T C . 0/1 40 None None None 0.50280 0.50280 0.00 None None None None None None None
View mm170241ct 10 rs72796303
dbSNP
49659644 366.77 A G . 0/1 34 None None None 0.07768 0.07768 None None None None None None None

ARMC3

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs11817610
dbSNP
23297301 1807.77 C T . 0/1 158 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.47916 None None None None None None None

ARMC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs7920186
dbSNP
28257852 51.77 C T . 0/1 128 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11122 0.11120 0.46 0.00 None None None None None None None
View mm170241ct 10 rs7893462
dbSNP
28228865 453.77 A G . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 0.49193 None None None None None None None
View mm170241ct 10 rs4405206
dbSNP
28260151 1752.77 A G . 0/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13478 0.13480 0.07274 0.37 0.00 None None None None None None None

ARMS2

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs10490923
dbSNP
124214251 257.77 G A . 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07508 0.07508 0.09869 1.00 0.00 None None None None None None None

ASAH2C

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 10 rs993869
dbSNP
48029324 35.74 A C . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

ATE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs10749435
dbSNP
123673339 3833.77 T C . 0/1 292 SYNONYMOUS_CODING LOW SILENT 0.89916 0.89920 0.08473 None None None None None None None
View mm170241ct 10 rs79570924
dbSNP
123687456 33.77 G A . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.11302 0.11300 0.07822 None None None None None None None
View mm170241ct 10 rs4237536
dbSNP
123596254 1032.77 T C . 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.88918 0.88920 0.09029 None None None None None None None

ATRNL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs10885721
dbSNP
117228794 1507.77 A G . 0/1 143 SYNONYMOUS_CODING LOW SILENT 0.34445 0.34440 0.45552 None None None None None None None
View mm170241ct 10 rs2254619
dbSNP
117486763 1498.77 G T . 0/1 119 SYNONYMOUS_CODING LOW SILENT 0.20108 0.20110 0.31893 None None None None None None None