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Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, AC004466.1, AC026310.1, AC068987.1, AC124890.1, ACACB, ACADS, ACSM4, ACSS3, ACTR6, ADAMTS20, ADCY6, AGAP2, AICDA, AKAP3, ALDH1L2, ALG10, ALG10B, AMDHD1, AMIGO2, ANHX, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, APOBEC1, APOLD1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARL6IP4, ART4, ASCL1, ASIC1, ASUN, ATF1, ATF7IP, ATN1, ATP5G2, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BAZ2A, BCDIN3D, BCL2L14, BEST3, BICD1, BIN2, BTBD11, C12orf10, C12orf36, C12orf4, C12orf43, C12orf45, C12orf5, C12orf50, C12orf54, C12orf55, C12orf56, C12orf66, C12orf68, C12orf71, C12orf73, C12orf76, C12orf77, C12orf79, C1R, C2CD5, CABP1, CACNA1C, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CASC1, CCDC38, CCDC41, CCDC53, CCDC60, CCDC63, CCDC65, CCDC91, CD163, CD163L1, CD27, CD4, CDK2, CELA1, CEP290, CERS5, CHD4, CHFR, CHPT1, CIT, CKAP4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC7A, CLEC9A, CLECL1, CLLU1, CMKLR1, CNTN1, COL2A1, COPS7A, COQ5, CPM, CPNE8, CPSF6, CRADD, CRY1, CSRP2, CTD-2021H9.3, CTD-2140B24.4, CUX2, DAZAP2, DBX2, DCP1B, DDN, DDX11, DDX23, DDX51, DDX55, DGKA, DHX37, DIABLO, DIP2B, DNAH10, DNAJC22, DPPA3, DPY19L2, DTX3, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EID3, EIF2S3L, EIF4B, ELK3, EMG1, EMP1, EP400, EP400NL, ERBB3, ERC1, ERP27, ESPL1, ESYT1, FAM186A, FAM216A, FAM71C, FAM90A1, FAR2, FBRSL1, FBXL14, FBXW8, FGD4, FGD6, FGF23, FGF6, FOXM1, FRS2, FZD10, GALNT4, GALNT8, GALNT9, GAPDH, GAS2L3, GATC, GCN1L1, GIT2, GLI1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GNB3, GNPTAB, GNS, GOLGA3, GPR133, GPR162, GPR19, GPRC5A, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR3, HECTD4, HELB, HIGD1C, HIP1R, HMGA2, HNF1A, HOXC10, HOXC11, HPD, HSP90B1, IFLTD1, IGF1, IKBIP, IQSEC3, IRAK3, IRAK4, ISCU, ITFG2, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNH3, KCTD10, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LETMD1, LGR5, LHX5, LMBR1L, LRIG3, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRIQ1, LRRK2, LTBR, MAGOHB, MANSC1, MANSC4, MAP1LC3B2, MARCH9, MED13L, MED21, METTL25, METTL7B, MLF2, MMAB, MMP17, MMP19, MON2, MPHOSPH9, MRPS35, MTERFD3, MUC19, MUCL1, MVK, MYBPC1, MYF5, MYL2, MYO1A, MYO1H, MYRFL, NAA25, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCOR2, NDUFA9, NOS1, NR1H4, NT5DC3, NUAK1, NUP107, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OR10P1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, ORAI1, OTOGL, OVCH1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PDZRN4, PFKM, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PITPNM2, PIWIL1, PKP2, PLBD1, PLBD2, PLCZ1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1CC, PPP1R12A, PPP1R1A, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRICKLE1, PRIM1, PRPH, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS7L, PXN, PZP, R3HDM2, RAB21, RAD52, RAD9B, RAPGEF3, RASAL1, RBM19, RBMS2, RBP5, RDH5, REP15, RFX4, RHNO1, RILPL1, RIMBP2, RIMKLB, RND1, RNFT2, RP11-1105G2.3, RP11-144F15.1, RP11-181C3.1, RP11-536G4.1, RP11-650K20.3, RP11-762I7.5, RPH3A, RPLP0, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SCYL2, SETD1B, SETD8, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC26A10, SLC2A13, SLC2A14, SLC35E3, SLC38A2, SLC38A4, SLC39A5, SLC5A8, SLC6A12, SLC6A13, SLC6A15, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMARCC2, SMCO2, SNRNP35, SOAT2, SP7, SPRYD4, SRGAP1, SRRM4, SSPN, ST8SIA1, STAB2, STAT6, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAPBPL, TAS2R10, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TCHP, TCP11L2, TCTN2, TDG, TEAD4, TENC1, TIMELESS, TMBIM4, TMCC3, TMED2, TMEM116, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TRAFD1, TRHDE, TROAP, TRPV4, TSPAN11, TSPAN8, TUBA1A, TUBA1B, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP5, UTP20, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WNT10B, XRCC6BP1, YAF2, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF641, ZNF664, ZNF84, ZNF891,

Genes at Omim

A2M, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, C1R, CACNA1C, CACNA2D4, CCDC65, CD4, CEP290, CIT, CLEC7A, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, FGD4, FGF23, GNB3, GNPTAB, GNS, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HMGA2, HNF1A, HPD, IGF1, IRAK3, IRAK4, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP6, LRRK2, MED13L, MMAB, MMP19, MVK, MYBPC1, MYL2, NDUFA9, NR1H4, NUP107, OAS1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLR3B, PRICKLE1, PRPH, PTPRO, PTPRQ, RDH5, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLC39A5, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, TCTN2, TNFRSF1A, TPH2, TRPV4, TUBA1A, UBE3B, VDR, VWF, WNK1, WNT10B,
A2M Alpha-2-macroglobulin deficiency, 614036 (1)
{Alzheimer disease, susceptibility to}, 104300 (3)
AAAS Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
ABCC9 Atrial fibrillation, familial, 12, 614050 (3)
Cardiomyopathy, dilated, 1O, 608569 (3)
Hypertrichotic osteochondrodysplasia, 239850 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ADCY6 ?Lethal congenital contracture syndrome 8, 616287 (3)
AICDA Immunodeficiency with hyper-IgM, type 2, 605258 (3)
ALG10 {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ART4 [Blood group, Dombrock], 616060 (3)
ASCL1 Central hypoventilation syndrome, congenital, 209880 (3)
Haddad syndrome, 209880 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATXN2 Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
{Parkinson disease, late-onset, susceptibility to}, 168600 (3)
C1R C1r/C1s deficiency, combined, 216950 (1)
CACNA1C Brugada syndrome 3, 611875 (3)
Timothy syndrome, 601005 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CEP290 ?Bardet-Biedl syndrome 14, 615991 (3)
Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
Senior-Loken syndrome 6, 610189 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Avascular necrosis of the femoral head, 608805 (3)
Czech dysplasia, 609162 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Legg-Calve-Perthes disease, 150600 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRADD Mental retardation, autosomal recessive 34, 614499 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DIP2B Mental retardation, FRA12A type, 136630 (3)
DPY19L2 Spermatogenic failure 9, 613958 (3)
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ERBB3 Lethal congenital contractural syndrome 2, 607598 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
FGF23 Hypophosphatemic rickets, autosomal dominant, 193100 (3)
Osteomalacia, tumor-induced (1)
Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)
GNB3 Night blindness, congenital stationary, type 1H, 617024 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
GNPTAB Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome, 219000 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
HAL [Histidinemia], 235800 (3)
HMGA2 Leiomyoma, uterine, somatic, 150699 (1)
HNF1A Diabetes mellitus, insulin-dependent, 20, 612520 (3)
Hepatic adenoma, somatic, 142330 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
IGF1 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
IRAK4 IRAK4 deficiency, 607676 (3)
Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (3)
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KCNA1 Episodic ataxia/myokymia syndrome, 160120 (3)
KCNA5 Atrial fibrillation, familial, 7, 612240 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KIAA1033 ?Mental retardation, autosomal recessive 43, 615817 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
KRAS Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Gastric cancer, somatic, 137215 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KRT1 Epidermolytic hyperkeratosis, 113800 (3)
Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT5 Dowling-Degos disease 1, 179850 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MP, 131960 (3)
Epidermylysis bullosa simplex-MCR, 609352 (3)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT6B Pachyonychia congenita 4, 615728 (3)
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
KRT71 ?Hypotrichosis 13, 615896 (3)
KRT74 ?Ectodermal dysplasia 7, hair/nail type, 614929 (3)
?Hypotrichosis 3, 613981 (3)
Woolly hair, autosomal dominant, 194300 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
KRT8 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT81 Monilethrix, 158000 (3)
KRT83 ?Monilethrix, 158000 (3)
KRT86 Monilethrix, 158000 (3)
LDHB [Lactate dehydrogenase-B deficiency], 614128 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MED13L Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)
Transposition of the great arteries, dextro-looped 1, 608808 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYBPC1 Arthrogryposis, distal, type 1B, 614335 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
MYL2 Cardiomyopathy, hypertrophic, 10, 608758 (3)
NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
NR1H4 Cholestasis, progressive familial intrahepatic, 5, 617049 (3)
NUP107 Nephrotic syndrome, type 11, 616730 (3)
OAS1 {Diabetes mellitus, type 1, susceptibility to}, 222100 (3)
{Viral infection, susceptibility to} (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
P2RX2 Deafness, autosomal dominant 41, 608224 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A Hypertension and brachydactyly syndrome, 112410 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PKP2 Arrhythmogenic right ventricular dysplasia 9, 609040 (3)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PRPH {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal recessive 84A, 613391 (3)
RDH5 Fundus albipunctatus, 136880 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCN8A ?Cognitive impairment with or without cerebellar ataxia, 614306 (3)
Epileptic encephalopathy, early infantile, 13, 614558 (3)
Seizures, benign familial infantile, 5, 617080 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLC39A5 Myopia 24, autosomal dominant, 615946 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SP7 ?Osteogenesis imperfecta, type XII, 613849 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
SUOX Sulfite oxidase deficiency, 272300 (3)
TCTN2 ?Meckel syndrome 8, 613885 (3)
Joubert syndrome 24, 616654 (3)
TNFRSF1A Periodic fever, familial, 142680 (3)
{Multiple sclerosis, susceptibility to, 5}, 614810 (3)
TPH2 {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
{Unipolar depression, susceptibility to}, 608516 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
TUBA1A Lissencephaly 3, 611603 (3)
UBE3B Kaufman oculocerebrofacial syndrome, 244450 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WNT10B Split-hand/foot malformation 6, 225300 (3)
Tooth agenesis, selective, 8, 617073 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ADCY6, AICDA, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, CACNA1C, CACNA2D4, CCDC65, CD27, CD4, CEP290, CHD4, CLEC7A, CNTN1, COL2A1, CRADD, DDX11, DIABLO, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, FGD4, FGF23, GNPTAB, GNS, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IGF1, IRAK4, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MMAB, MMP19, MVK, MYBPC1, MYL2, MYO1A, NDUFA9, NUP107, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, RDH5, SART3, SCN8A, SCNN1A, SLC11A2, SLC39A5, SLCO1B1, SLCO1B3, SP7, SUOX, TCTN2, TNFRSF1A, TRPV4, TUBA1A, UBE3B, VDR, VWF, WNK1, WNT10B,
A2M Alpha-2-macroglobulin deficiency
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cantu syndrome
Atrial fibrillation, familial 12
Cardiomyopathy, dilated, 10
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ADCY6 Lethal congenital contracture syndrome 8
AICDA Immunodeficiency with hyper-IgM, type 2
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ART4 Blood group, Dombrock
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATN1 Dentatorubro-pallidoluysian atrophy
ATP6V0A2 Wrinkly skin syndrome
Cutis laxa, autosomal recessive, type IIA
ATXN2 Spinocerebellar ataxia 2
CACNA1C Timothy syndrome
Brugada syndrome 3
CACNA2D4 Retinal cone dystrophy 4
CCDC65 Ciliary dyskinesia, primary, 27
CD27 Lymphoproliferative syndrome 2
CD4 OKT4 epitope deficiency
CEP290 Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome 4
Leber congenital amaurosis 10
CHD4 Schizophrenia
CLEC7A Candidiasis, familial, 4
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Avascular necrosis of femoral head, primary
Epiphyseal dysplasia, multiple, with myopia and deafness
Otospondylomegaepiphyseal dysplasia
Czech dysplasia
Rhegmatogenous retinal detachment, autosomal dominant
Stickler syndrome, type I
CRADD Mental retardation, autosomal recessive 34
DDX11 Warsaw breakage syndrome
DIABLO Deafness, autosomal dominant 64
DIP2B Mental retardation, FRA12A type
DPY19L2 Globozoospermia
Spermatogenic failure 9
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1 Bowen-Conradi syndrome
ERBB3 Lethal congenital contractural syndrome 2
FGD4 Charcot-Marie-Tooth disease, type 4H
FGF23 Tumoral calcinosis, hyperphosphatemic
Hypophosphatemic rickets, autosomal dominant
GNPTAB Mucolipidosis II alpha/beta (I-cell disease)
Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GRIN2B Epileptic encephalopathy, early infantile 27
Mental retardation, autosomal dominant 6
GRIP1 Fraser syndrome
GUCY2C Meconium ileus
Diarrhea 6
GYS2 Glycogen storage disease, type 0, liver
HAL Histidinemia
HNF1A Maturity onset diabetes of the young, type III
Liver adenomatosis
Renal cell carcinoma, nonpapillary clear cell
HPD Hawksinuria
Tyrosinemia, type III
IGF1 Insulin-like growth factor I deficiency
IRAK4 Invasive pneumococcal disease, recurrent, isolated, 1
IRAK4 deficiency
ISCU Myopathy with lactic acidosis, hereditary
ITGA7 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KCNA1 Episodic ataxia, type 1/myokymia syndrome
KCNA5 Atrial fibrillation, familial, 7
KERA Cornea plana 2, autosomal recessive
KIAA1033 Mental retardation, autosomal recessive 43
KMT2D Kabuki syndrome 1
KRAS Cardiofaciocutaneous syndrome
Noonan syndrome
KRT1 Epidermolytic hyperkeratosis
Palmoplantar keratoderma, nonepidermolytic
Palmoplantar keratoderma, epidermolytic
Ichthyosis histrix, Curth-Macklin type
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Keratosis palmoplantaris striata III
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
KRT3 Meesmann corneal dystrophy
KRT5 Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Koebner type
Dowling-Degos disease 1
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with migratory circinate erythema
KRT6A Pachyonychia congenita 3
KRT6B Pachyonychia congenita 4
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT71 Hypotrichosis 13
KRT74 Woolly hair, autosomal dominant
Hypotrichosis 3
Ectodermal dysplasia 7, hair/nail type
KRT75 Pseudofolliculitis barbae
KRT81 Monilethrix
KRT83 Monilethrix
KRT86 Monilethrix
LDHB Lactate dehydrogenase B deficiency
LRP1 Schizophrenia
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Dementia, Lewy body
Parkinson disease 8
MED13L Intellectual disability, autosomal recessive
Congenital heart defects and intellectual disability
Mental retardation and distinctive facial features with or without cardiac defects
Transposition of the great arteries, dextro-looped 1
MMAB Methylmalonic acidemia, cblB type
MMP19 Cavitary optic disc anomalies
MVK Hyper-IgD syndrome
Mevalonic aciduria
MYBPC1 Lethal congenital contractural syndrome 4
Arthrogryposis, distal, type 1B
MYL2 Cardiomyopathy, familial hypertrophic, 10
MYO1A Deafness, autosomal dominant 48
NDUFA9 Leigh syndrome
Mitochondrial complex I deficiency
NUP107 Nephrotic syndrome, type 11
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PAH Hyperphenylalaninemia, non-PKU mild
Phenylketonuria
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
PKP2 Arrhythmogenic right ventricular dysplasia, familial 9
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
RDH5 Fundus albipunctatus
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Epileptic encephalopathy, early infantile, 13
Cognitive impairment with or without cerebellar ataxia
SCNN1A Bronchiectasis with or without elevated sweat chloride 2
Pseudohypoaldosteronism, type I
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLC39A5 Myopia 24
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic
Statin-induced myopathy
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TCTN2 Meckel syndrome 8
Joubert syndrome 24
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
TRPV4 Digital arthropathy-brachydactyly, familial
Parastremmatic dwarfism
Spondylometaphyseal dysplasia, Kozlowski type
Hereditary motor and sensory neuropathy, type Iic
Scapuloperoneal spinal muscular atrophy
Spondyloepiphyseal dysplasia, Maroteaux type
Metatropic dysplasia
Brachyolmia type 3
Spinal muscular atrophy, distal, congenital nonprogressive
TUBA1A Lissencephaly 3
UBE3B Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 3
von Willebrand disease, type 2A
von Willebrand disease, type 1
WNK1 Neuropathy, hereditary sensory and autonomic, type IIA
Pseudohypoaldosteronism, type IIC
WNT10B Split-hand/foot malformation 6

Genes at HGMD

Summary

Number of Variants: 8169
Number of Genes: 569

Export to: CSV

A2M

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 12 rs226405
dbSNP
9248233 3540.77 T C . 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None None

A2ML1

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 12 rs1558526
dbSNP
9009820 186.77 G A . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11122 0.11120 0.18966 0.00 1.00 None None None None None None None
View mm170241ct 12 rs61749073
dbSNP
9020563 872.77 T C . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.07308 0.07308 0.10809 None None None None None None None
View mm170241ct 12 rs7308811
dbSNP
9020489 550.77 A G . 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85264 0.85260 0.22254 0.57 0.00 None None None None None None None
View mm170241ct 12 rs10219561
dbSNP
9016573 87.28 A G . 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None None
View mm170241ct 12 rs11612600
dbSNP
9010671 1479.77 G A . 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.25439 0.25440 0.30652 None None None None None None None
View mm170241ct 12 rs7300139
dbSNP
8997841 991.77 G T . 0/1 71 None None None 0.15775 0.15770 0.00 None None None None None None None
View mm170241ct 12 rs1860927
dbSNP
9004512 860.77 G A . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.86821 0.86820 0.19218 None None None None None None None
View mm170241ct 12 rs1860926
dbSNP
9004892 2391.77 C A . 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96605 0.96610 0.03530 1.00 0.00 None None None None None None None
View mm170241ct 12 rs1476910
dbSNP
9020912 1772.77 A G . 0/1 139 SYNONYMOUS_CODING LOW SILENT 0.67772 0.67770 0.25352 None None None None None None None

AAAS

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View mm170241ct 12 rs11540353
dbSNP
53708910 740.77 A G . 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.03634 0.03634 0.07573 None None None None None None None
View mm170241ct 12 rs1546808
dbSNP
53703021 1437.77 G A . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.91534 0.91530 0.09373 None None None None None None None

AACS

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View mm170241ct 12 rs77481673
dbSNP
125562892 164.77 C T . 0/1 12 None None None 0.14677 0.14680 None None None None None None None
View mm170241ct 12 rs7303092
dbSNP
125562809 1530.77 G A . 1/1 44 None None None 0.98582 0.98580 0.67 0.00 None None None None None None None
View mm170241ct 12 rs11549081
dbSNP
125561151 1475.77 A G . 1/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22065 0.22060 0.19383 1.00 0.00 None None None None None None None
View mm170241ct 12 rs77320648
dbSNP
125621219 59.77 G C . 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01118 0.01118 0.01261 0.04 0.42 None None None None None None None

ABCC9

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View mm170241ct 12 rs10770865
dbSNP
22063115 8471.77 A G . 1/1 251 SYNONYMOUS_CODING LOW SILENT 0.99720 0.99720 0.00354 None None None None None None None

AC004466.1

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View mm170241ct 12 rs3815133
dbSNP
48179044 121.03 C G . 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81869 0.81870 0.85 None None None None None None None

AC026310.1

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View mm170241ct 12 rs11047699
dbSNP
25056065 37.77 G T . 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03135 0.03135 0.00 0.98 None None None None None None None

AC068987.1

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View mm170241ct 12 rs172559
dbSNP
52204246 3592.77 T C . 1/1 113 SYNONYMOUS_CODING LOW SILENT 0.83846 0.83850 None None None None None None None

AC124890.1

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View mm170241ct 12 rs12099962
dbSNP
69186534 743.77 T C . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.09844 0.09844 None None None None None None None

ACACB

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View mm170241ct 12 rs2075260
dbSNP
109696838 764.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73882 0.73880 0.21898 1.00 0.00 None None None None None None None
View mm170241ct 12 rs2878960
dbSNP
109577735 962.77 C T . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.39776 0.39780 0.45448 None None None None None None None
View mm170241ct 12 rs11065772
dbSNP
109617865 114.03 T C . 1/1 4 SYNONYMOUS_CODING LOW SILENT 0.67732 0.67730 0.25996 None None None None None None None
View mm170241ct 12 rs11065655
dbSNP
109577465 1316.77 C T . 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.06689 0.06689 0.06858 None None None None None None None
View mm170241ct 12 rs7135947
dbSNP
109629457 941.77 C T . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.38139 0.38140 0.44503 None None None None None None None
View mm170241ct 12 rs2241220
dbSNP
109675029 2107.77 T C . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.77915 0.77920 0.19699 None None None None None None None
View mm170241ct 12 rs16940029
dbSNP
109617728 63.77 A G . 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07887 0.07887 0.08173 1.00 0.00 None None None None None None None

ACADS

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View mm170241ct 12 rs3915
dbSNP
121176679 482.77 C T . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.67312 0.67310 0.40804 None None None None None None None
View mm170241ct 12 rs555404
dbSNP
121175984 368.77 T C . 0/1 33 None None None 0.59385 0.59380 0.03 0.00 None None None None None None None
View mm170241ct 12 rs3914
dbSNP
121174899 262.77 T C . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.59066 0.59070 0.49323 None None None None None None None

ACSM4

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View mm170241ct 12 rs7968241
dbSNP
7463241 213.77 A T . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.32308 0.32310 0.43174 None None None None None None None

ACSS3

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View mm170241ct 12 rs1921038
dbSNP
81627238 2714.77 C T . 0/1 203 SYNONYMOUS_CODING LOW SILENT 0.17692 0.17690 0.18238 None None None None None None None

ACTR6

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View mm170241ct 12 rs17030036
dbSNP
100599498 3706.77 C T . 0/1 254 SYNONYMOUS_CODING LOW SILENT 0.01597 0.01597 0.01732 None None None None None None None

ADAMTS20

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View mm170241ct 12 rs11182088
dbSNP
43860526 3057.77 A G . 1/1 98 SYNONYMOUS_CODING LOW SILENT 0.43171 0.43170 0.31244 None None None None None None None

ADCY6

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View mm170241ct 12 rs2453486
dbSNP
49177113 775.77 T G . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.29213 0.29210 0.26965 None None None None None None None

AGAP2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs17852479
dbSNP
58126234 707.77 C A . 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.21566 0.21570 0.31812 None None None None None None None

AICDA

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View mm170241ct 12 rs2028373
dbSNP
8757481 691.77 G A . 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.48423 0.48420 0.45065 None None None None None None None

AKAP3

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View mm170241ct 12 rs10774251
dbSNP
4736690 6372.77 A G . 1/1 176 SYNONYMOUS_CODING LOW SILENT 0.97264 0.97260 0.03283 None None None None None None None
View mm170241ct 12 rs2072358
dbSNP
4735737 1020.77 A G . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.26418 0.26420 0.24789 None None None None None None None
View mm170241ct 12 rs1990312
dbSNP
4736495 1706.77 C T . 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98283 0.98280 0.02299 1.00 0.00 None None None None None None None
View mm170241ct 12 rs11063265
dbSNP
4736631 3937.77 A G . 1/1 124 SYNONYMOUS_CODING LOW SILENT 0.98283 0.98280 0.02314 None None None None None None None
View mm170241ct 12 rs11063266
dbSNP
4736677 6042.77 G C . 1/1 163 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91154 0.91150 0.05090 0.32 0.00 None None None None None None None
View mm170241ct 12 rs2072355
dbSNP
4737715 2527.77 C T . 1/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70547 0.70550 0.26203 1.00 0.00 None None None None None None None
View mm170241ct 12 rs2072356
dbSNP
4737459 3160.77 C T . 1/1 87 SYNONYMOUS_CODING LOW SILENT 0.70727 0.70730 0.26196 None None None None None None None
View mm170241ct 12 rs7960207
dbSNP
4737318 4131.77 A G . 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.81749 0.81750 0.12133 None None None None None None None
View mm170241ct 12 rs7972737
dbSNP
4737042 2132.77 G A . 0/1 147 SYNONYMOUS_CODING LOW SILENT 0.28455 0.28450 0.37567 None None None None None None None

ALDH1L2

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View mm170241ct 12 rs11112330
dbSNP
105434467 869.77 C T . 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.30491 0.30490 0.31040 None None None None None None None
View mm170241ct 12 rs4964317
dbSNP
105433523 2544.77 T A . 0/1 184 SYNONYMOUS_CODING LOW SILENT 0.31050 0.31050 0.31808 None None None None None None None

ALG10

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View mm170241ct 12 rs56393741
dbSNP
34177079 5287.77 A G . 0/1 403 SYNONYMOUS_CODING LOW SILENT 0.03914 0.03914 0.04052 None None None None None None None

ALG10B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs35518352
dbSNP
38715000 5714.77 A G . 0/1 354 SYNONYMOUS_CODING LOW SILENT 0.25140 0.25140 0.35336 None None None None None None None
View mm170241ct 12 rs6582584
dbSNP
38712142 16138.77 C G . 1/1 504 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96665 0.96670 0.03383 1.00 0.00 None None None None None None None

AMDHD1

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View mm170241ct 12 rs143136011
dbSNP
96354236 2623.77 G T . 0/1 190 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01138 0.01138 0.01353 0.19 0.03 None None None None None None None
View mm170241ct 12 rs1982138
dbSNP
96346594 2171.77 T C . 0/1 181 SYNONYMOUS_CODING LOW SILENT 0.25459 0.25460 0.20231 None None None None None None None
View mm170241ct 12 rs1436121
dbSNP
96337225 37.77 C T . 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.25479 0.25480 0.14615 None None None None None None None
View mm170241ct 12 rs17024904
dbSNP
96360172 727.77 C A . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01617 0.01617 0.01807 0.07 0.46 None None None None None None None
View mm170241ct 12 rs7955450
dbSNP
96337183 26.78 A G LowQual 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71845 0.71850 0.56 0.00 None None None None None None None

AMIGO2

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View mm170241ct 12 rs2269828
dbSNP
47471439 2003.77 G A . 0/1 137 SYNONYMOUS_CODING LOW SILENT 0.22165 0.22160 0.27249 None None None None None None None

ANHX

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs141475940
dbSNP
133810703 311.77 G C . 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.12999 0.13000 None None None None None None None
View mm170241ct 12 rs36146434
dbSNP
133803551 160.77 G C . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12919 0.12920 0.17 0.63 None None None None None None None
View mm170241ct 12 rs147259575
dbSNP
133808129 852.77 C T . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.12820 0.12820 None None None None None None None
View mm170241ct 12 rs140813788
dbSNP
133808139 550.77 G A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02476 0.02476 0.25 0.00 None None None None None None None

ANKLE2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs1132375
dbSNP
133331537 1666.77 G A . 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26038 0.26040 0.30305 0.04 0.18 None None None None None None None
View mm170241ct 12 rs80280706
dbSNP
133319817 1443.77 C T . 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01677 0.01677 0.01164 0.02 0.83 None None None None None None None
View mm170241ct 12 rs10781634
dbSNP
133306589 607.77 C T . 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24720 0.24720 0.31189 0.16 0.00 None None None None None None None

ANKRD13A

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 12 rs2302689
dbSNP
110456175 1078.77 A G . 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.31150 0.31150 0.31140 None None None None None None None
View mm170241ct 12 rs2287174
dbSNP
110474070 1723.77 T C . 0/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08287 0.08287 0.07389 0.26 0.17 None None None None None None None

ANKRD33

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 12 rs12368048
dbSNP
52284668 2168.77 C A . 1/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16514 0.16510 0.18353 0.00 0.93 None None None None None None None
View mm170241ct 12 rs697634
dbSNP
52282060 3254.77 C T . 1/1 105 SYNONYMOUS_CODING LOW SILENT 0.33167 0.33170 0.25811 None None None None None None None
View mm170241ct 12 rs7303030
dbSNP
52284483 2474.77 A G . 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.10503 0.10500 0.17246 None None None None None None None
View mm170241ct 12 rs697636
dbSNP
52282873 1092.77 A T . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32388 0.32390 0.26403 0.05 0.96 None None None None None None None

ANKRD52

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 12 rs1274490
dbSNP
56649601 194.84 A G . 1/1 7 SYNONYMOUS_CODING LOW SILENT 0.80631 0.80630 0.20515 None None None None None None None
View mm170241ct 12 rs808919
dbSNP
56647911 1068.77 G C . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.80471 0.80470 0.20446 None None None None None None None

ANKS1B

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 12 rs3751323
dbSNP
99640428 2020.77 T C . 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.54832 0.54830 0.39685 None None None None None None None
View mm170241ct 12 rs148678454
dbSNP
99837570 1400.77 C T . 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00799 0.00799 0.01203 0.30 0.00 None None None None None None None
View mm170241ct 12 rs1552759
dbSNP
99640557 946.77 T C . 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.63219 0.63220 0.43523 None None None None None None None

ANO2

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 12 rs3741901
dbSNP
6030301 512.77 G A . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05351 0.05351 0.08737 0.15 0.63 None None None None None None None
View mm170241ct 12 rs2277398
dbSNP
5674754 255.77 G A . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.34225 0.34230 0.39520 None None None None None None None

ANO4

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 12 rs73145643
dbSNP
101133748 1481.77 A C . 0/1 109 None None None 0.10963 0.10960 0.17 0.01 None None None None None None None
View mm170241ct 12 rs34182255
dbSNP
101295602 583.77 C G . 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.12001 0.12000 0.13924 None None None None None None None
View mm170241ct 12 rs1055734
dbSNP
101520689 1326.77 A G . 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.14717 0.14720 0.13732 None None None None None None None

APOBEC1

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 12 rs10431309
dbSNP
7803646 1231.77 G A . 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.24201 0.24200 0.20844 None None None None None None None
View mm170241ct 12 rs2302515
dbSNP
7805236 3378.77 C G . 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65915 0.65910 0.22128 0.46 0.00 None None None None None None None

APOLD1

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 12 rs7956514
dbSNP
12879254 1640.77 T G . 0/1 115 None None None 0.23343 0.23340 0.00 None None None None None None None

APPL2

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 12 rs935241
dbSNP
105568122 2647.77 G A . 1/1 73 SYNONYMOUS_CODING LOW SILENT 0.93411 0.93410 0.13778 None None None None None None None
View mm170241ct 12 rs935240
dbSNP
105568176 3596.77 G A . 1/1 114 SYNONYMOUS_CODING LOW SILENT 0.93411 0.93410 0.13778 None None None None None None None

AQP2

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 12 rs426496
dbSNP
50348078 2306.77 T C . 1/1 65 SYNONYMOUS_CODING LOW SILENT 0.66713 0.66710 0.30671 None None None None None None None

ARF3

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 12 rs12122
dbSNP
49334762 710.77 G C . 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.92312 0.92310 0.09227 None None None None None None None

ARHGAP9

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 12 rs11544238
dbSNP
57870155 338.77 A C . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37021 0.37020 0.48939 0.20 0.00 None None None None None None None
View mm170241ct 12 rs2277315
dbSNP
57869582 422.77 T C . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59066 0.59070 0.28836 0.47 0.00 None None None None None None None
View mm170241ct 12 rs3825080
dbSNP
57871555 264.78 A G . 1/1 9 None None None 0.61082 0.61080 0.02 0.00 None None None None None None None

ARHGDIB

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 12 rs2430711
dbSNP
15103605 1775.77 A G . 1/1 55 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 0.00008 None None None None None None None

ARHGEF25

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 12 rs1564374
dbSNP
58010163 1106.77 A G . 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63019 0.63020 0.44610 1.00 0.00 None None None None None None None

ARL6IP4

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 12 rs201538831
dbSNP
123466159 317.77 G A . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00015 0.00 0.22 None None None None None None None

ART4

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 12 rs3088190
dbSNP
14982352 2966.77 G C . 1/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12141 0.12140 0.10372 0.09 0.00 None None None None None None None

ASCL1

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 12 rs3832799,rs764970999
dbSNP
103352171 440.52 C CGCA . 1/1 23 CODON_INSERTION MODERATE None None None None None None None
View mm170241ct 12 rs376318467
dbSNP
103352211 434.77 G C . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.01238 0.01238 0.00714 None None None None None None None

ASIC1

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 12 rs653576
dbSNP
50452708 1253.77 C G . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.92752 0.92750 0.03721 None None None None None None None

ASUN

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 12 rs3210635
dbSNP
27064232 2864.77 C T . 0/1 201 SYNONYMOUS_CODING LOW SILENT 0.57927 0.57930 0.48731 None None None None None None None

ATF1

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 12 rs2230674
dbSNP
51208122 3277.77 C G . 0/1 236 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00919 0.00919 0.02253 0.09 0.17 None None None None None None None