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Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, ACACB, ACADS, ACSM4, ADAMTS20, ADCY6, AGAP2, AICDA, AKAP3, ALDH1L2, ALG10B, AMDHD1, ANKLE2, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, ANP32D, APOBEC1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ART4, ASIC1, ATF1, ATF7, ATF7IP, ATN1, ATP2A2, ATXN7L3B, AVIL, B3GNT4, BCL2L14, BCL7A, BEST3, BICD1, BIN2, BTBD11, C12orf10, C12orf29, C12orf36, C12orf42, C12orf43, C12orf55, C12orf56, C12orf66, C12orf68, C12orf71, C12orf77, C1RL, C2CD5, CACNA1C, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CCDC38, CCDC41, CCDC53, CCDC60, CCDC65, CCDC91, CCNT1, CCT2, CD163, CD163L1, CD4, CDKN1B, CEP290, CERS5, CHFR, CHPT1, CIT, CKAP4, CLEC12B, CLEC1A, CLEC1B, CLEC2D, CLEC4A, CLEC4D, CLEC9A, CLECL1, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COPS7A, CPM, CPNE8, CPSF6, CRADD, CRY1, CUX2, DAO, DAZAP2, DBX2, DDX11, DDX23, DDX47, DDX51, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DPY19L2, DTX1, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EIF4B, EMG1, EP400, EPS8, ESPL1, FAM101A, FAM186A, FAM186B, FAM71C, FAM90A1, FBRSL1, FBXL14, FBXW8, FGD6, FGF6, FICD, FMNL3, FOXM1, FOXN4, FZD10, GALNT4, GALNT8, GALNT9, GAS2L3, GCN1L1, GDF3, GLI1, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR182, GPR19, GPRC5A, GPRC5D, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR3, HECTD4, HELB, HIP1R, HNF1A, HOXC11, HOXC9, HPD, IFLTD1, IKBIP, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KCTD10, KDM2B, KERA, KIAA1033, KIAA1467, KIAA1551, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRR1, KRT18, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LALBA, LARP4, LDHB, LEPREL2, LETMD1, LGR5, LIMA1, LPCAT3, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRIQ1, LRRK2, LTBR, MAGOHB, MANSC1, MANSC4, MCRS1, MDM1, METAP2, METTL25, MGP, MGST1, MMAB, MMP17, MMP19, MON2, MPHOSPH9, MVK, MYBPC1, MYO1A, MYO1H, NAA25, NACA, NANOG, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NINJ2, NOC4L, NOS1, NT5DC3, NTN4, NUAK1, NUP107, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C76, OR8S1, OR9K2, ORAI1, OVCH1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE3A, PDZRN4, PFKM, PGAM5, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PIWIL1, PKP2, PLBD1, PLBD2, PLEKHA5, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1R1A, PPTC7, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRPH, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PXMP2, PXN, PZP, RAB3IP, RAB5B, RAPGEF3, RASAL1, RBM19, RBMS2, RBP5, REP15, RFC5, RFX4, RILPL1, RIMBP2, RIMKLB, RND1, RNFT2, RPH3A, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SELPLG, SETD1B, SFSWAP, SH2B3, SLC15A4, SLC16A7, SLC26A10, SLC2A14, SLC2A3, SLC38A4, SLC5A8, SLC6A12, SLC6A13, SLC6A15, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOAT2, SOCS2, SOX5, SP1, SP7, SPRYD4, SRGAP1, SSH1, STAB2, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R31, TAS2R42, TAS2R43, TAS2R50, TAS2R8, TAS2R9, TBC1D15, TBK1, TCHP, TCP11L2, TCTN2, TDG, TESPA1, THAP2, TIMELESS, TMBIM6, TMCC3, TMED2, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPRSS12, TMTC1, TMTC3, TPH2, TRHDE, TROAP, TRPV4, TSPAN11, TSPAN8, TUBA1B, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP44, USP5, UTP20, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WNT10B, XRCC6BP1, YAF2, ZFC3H1, ZNF26, ZNF268, ZNF384, ZNF641, ZNF664, ZNF705A, ZNF84,

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10B, ANKLE2, AQP2, ART4, ATN1, ATP2A2, BCL7A, CACNA1C, CACNA2D4, CCDC65, CD4, CDKN1B, CEP290, CIT, CLEC1A, CNTN1, COL2A1, CRADD, CRY1, CUX2, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, EPS8, GDF3, GLI1, GNB3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KMT2D, KRAS, KRT18, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LIMA1, LRP1, LRP6, LRRK2, MGP, MMAB, MMP19, MVK, MYBPC1, NCAPD2, NUP107, ORAI1, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PRPH, PTPRO, PTPRQ, SCARB1, SCN8A, SH2B3, SLCO1B1, SLCO1B3, SOX5, SP7, SRGAP1, SUOX, SYT1, TBK1, TCTN2, TMTC3, TPH2, TRPV4, UBE3B, VDR, VWF, WDR66, WNK1, WNT10B,
A2M Alpha-2-macroglobulin deficiency, 614036 (1)
{Alzheimer disease, susceptibility to}, 104300 (3)
A2ML1 {Otitis media, susceptibility to}, 166760 (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)
ALG10B {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)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP2A2 Darier disease, 124200 (3)
Acrokeratosis verruciformis, 101900 (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
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)
CDKN1B Multiple endocrine neoplasia, type IV, 610755 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (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, with variant lissencephaly, 614499 (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (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)
EPS8 ?Deafness, autosomal recessive 102, 615974 (3)
GDF3 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
Microphthalmia, isolated 7, 613704 (3)
Microphthalmia with coloboma 6, 613703 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNB3 {Hypertension, essential, susceptibility to}, 145500 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
GNPTAB Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome 3, 617667 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
HAL [Histidinemia], 235800 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (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)
IRAK3 {Asthma susceptibility 5}, 611064 (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)
KMT2D Kabuki syndrome 1, 147920 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (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)
KRT18 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (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-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (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 Erythrokeratodermia variabilis et progressiva 5, 617756 (3)
Monilethrix, 158000 (3)
KRT86 Monilethrix, 158000 (3)
LDHB [Lactate dehydrogenase-B deficiency], 614128 (3)
LIMA1 [Low density lipoprotein cholesterol level QTL 8], 618079 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MGP Keutel syndrome, 245150 (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)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NUP107 Galloway-Mowat syndrome 7, 618348 (3)
Nephrotic syndrome, type 11, 616730 (3)
?Ovarian dysgenesis 6, 618078 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (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)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
PRPH {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (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)
?Myoclonus, familial, 2, 618364 (3)
Seizures, benign familial infantile, 5, 617080 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SOX5 Lamb-Shaffer syndrome, 616803 (3)
SP7 Osteogenesis imperfecta, type XII, 613849 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
SUOX Sulfite oxidase deficiency, 272300 (3)
SYT1 Baker-Gordon syndrome, 618218 (3)
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (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)
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)
WDR66 Spermatogenic failure 33, 618152 (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, ATN1, ATP2A2, CACNA1C, CACNA2D4, CCDC65, CD4, CDKN1B, CEP290, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, EPS8, GDF3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MGP, MMAB, MMP19, MVK, MYBPC1, MYO1A, NUP107, ORAI1, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PTPRO, PTPRQ, SART3, SCN8A, SLCO1B1, SLCO1B3, SOX5, SP7, SUOX, TBK1, TCTN2, TRPV4, UBE3B, VDR, VWF, WNK1, WNT10B,
A2M Alpha-2-macroglobulin deficiency
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
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
ATN1 Dentatorubro-pallidoluysian atrophy
ATP2A2 Darier-White disease
Acrokeratosis verruciformis (Hopf disease)
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCDC65 Ciliary dyskinesia, primary, 27
CD4 OKT4 epitope deficiency
CDKN1B Multiple endocrine neoplasia, type IV
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
CRADD Mental retardation, autosomal recessive 34
DDX11 Warsaw breakage syndrome
DIP2B Mental retardation, FRA12A type
DPY19L2 Spermatogenic failure 9
Globozoospermia
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1 Bowen-Conradi syndrome
EPS8 Deafness, autosomal recessive 102
GDF3 Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Coloboma, ocular
GNPTAB Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
Mucolipidosis II alpha/beta (I-cell disease)
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GPD1 Hypertriglyceridemia, transient infantile
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
GRIP1 Fraser syndrome
GUCY2C Diarrhea 6
Meconium ileus
GYS2 Glycogen storage disease, type 0, liver
HAL Histidinemia
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HPD Tyrosinemia, type III
Hawksinuria
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 Noonan syndrome
Cardiofaciocutaneous syndrome
KRT3 Meesmann corneal dystrophy
KRT5 Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT6A Pachyonychia congenita 3
KRT6B Pachyonychia congenita 4
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT71 Hypotrichosis 13
KRT74 Ectodermal dysplasia 7, hair/nail type
Hypotrichosis 3
Woolly hair, autosomal dominant
KRT75 Pseudofolliculitis barbae
KRT81 Monilethrix
KRT83 Monilethrix
KRT86 Monilethrix
LDHB Lactate dehydrogenase B deficiency
LRP1 Schizophrenia
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
MGP Keutel syndrome
MMAB Methylmalonic acidemia, cblB type
MMP19 Cavitary optic disc anomalies
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
MYO1A Deafness, autosomal dominant 48
NUP107 Nephrotic syndrome, type 11
ORAI1 Immunodeficiency 9
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
PKP2 Arrhythmogenic right ventricular dysplasia, familial 9
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SOX5 Lamb-Shaffer syndrome
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TBK1 Herpes simplex encephalitis
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
UBE3B Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
WNT10B Split-hand/foot malformation 6

Genes at HGMD

Summary

Number of Variants: 2772
Number of Genes: 479

Export to: CSV

A2M

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 grc14378021_exome 12 rs226405
dbSNP Clinvar
9248233 676.843 T C . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None A2M|0.10920489|49.36%
View grc14378021_exome 12 rs669
dbSNP Clinvar
9232268 383.358 T C . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.25439 0.25440 0.31965 0.34 0.01 None None None None None None A2M|0.10920489|49.36%

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 grc14378021_exome 12 rs7308811
dbSNP Clinvar
9020489 1484.13 A G . 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.85264 0.85260 0.22254 0.57 0.00 None None None None None None A2ML1|0.011663794|79.48%
View grc14378021_exome 12 rs10219561
dbSNP Clinvar
9016573 14.6924 A G . 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None A2ML1|0.011663794|79.48%
View grc14378021_exome 12 rs1476910
dbSNP Clinvar
9020912 1484.13 A G . 0/1 67 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View grc14378021_exome 12 rs1860927
dbSNP Clinvar
9004512 1484.13 G A . 1/1 47 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View grc14378021_exome 12 rs1860926
dbSNP Clinvar
9004892 1484.13 C A . 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.96605 0.96610 0.03530 1.00 0.00 None None None None None None A2ML1|0.011663794|79.48%

AAAS

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 grc14378021_exome 12 rs1546808
dbSNP Clinvar
53703021 1484.13 G A . 1/1 146 SYNONYMOUS_CODING LOW None 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%

AACS

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 grc14378021_exome 12 rs3763984
dbSNP Clinvar
125587278 1484.13 G A . 0/1 75 SYNONYMOUS_CODING LOW None 0.05591 0.05591 0.02929 None None None None None None AACS|0.059537921|60.03%

ABCC9

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 grc14378021_exome 12 rs10770865
dbSNP Clinvar
22063115 1484.13 A G . 1/1 50 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

ACACB

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 grc14378021_exome 12 rs2300455
dbSNP Clinvar
109623516 1484.13 G A . 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15955 0.15950 0.14624 0.04 0.48 None None None None None None ACACB|0.108212697|49.54%
View grc14378021_exome 12 rs2075260
dbSNP Clinvar
109696838 1484.13 G A . 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.73882 0.73880 0.21898 1.00 0.00 None None None None None None ACACB|0.108212697|49.54%
View grc14378021_exome 12 rs17848835
dbSNP Clinvar
109692053 1484.13 C T . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.07568 0.07568 0.11495 0.25 0.01 None None None None None None ACACB|0.108212697|49.54%
View grc14378021_exome 12 rs2241220
dbSNP Clinvar
109675029 1484.13 T C . 1/1 51 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View grc14378021_exome 12 rs11065772
dbSNP Clinvar
109617865 44.2284 T C . 0/1 18 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View grc14378021_exome 12 rs4766516
dbSNP Clinvar
109605730 1484.13 C T . 0/1 111 SYNONYMOUS_CODING LOW None 0.23163 0.23160 0.15708 None None None None None None ACACB|0.108212697|49.54%

ACADS

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 grc14378021_exome 12 rs1799958
dbSNP Clinvar
121176083 1484.13 G A . 1/1 72 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.34 None None None None None None ACADS|0.070436549|57.39%
View grc14378021_exome 12 rs3915
dbSNP Clinvar
121176679 1484.13 C T . 1/1 165 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%
View grc14378021_exome 12 rs3914
dbSNP Clinvar
121174899 1484.13 T C . 1/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACSM4

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378021_exome 12 . 7456941 18.7785 T C . 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.13 0.01 None None None None None None ACSM4|0.022577905|72.89%
View grc14378021_exome 12 rs7968241
dbSNP Clinvar
7463241 1479.32 A T . 0/1 79 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ADAMTS20

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 grc14378021_exome 12 rs10506226
dbSNP Clinvar
43769228 1484.13 A C . 0/1 72 SYNONYMOUS_CODING LOW None 0.22244 0.22240 0.26150 None None None None None None ADAMTS20|0.033294654|68.04%
View grc14378021_exome 12 rs10880473
dbSNP Clinvar
43769276 1484.13 T C . 0/1 47 SYNONYMOUS_CODING LOW None 0.22384 0.22380 0.26257 None None None None None None ADAMTS20|0.033294654|68.04%
View grc14378021_exome 12 . 43944831 1008.96 G T . 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.18 None None None None None None ADAMTS20|0.033294654|68.04%

ADCY6

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 grc14378021_exome 12 rs3730308
dbSNP Clinvar
49176872 1484.13 G T . 0/1 148 SYNONYMOUS_CODING LOW None 0.15036 0.15040 0.18061 None None None None None None ADCY6|0.441849668|18.58%

AGAP2

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 grc14378021_exome 12 rs17852479
dbSNP Clinvar
58126234 1484.13 C A . 1/1 117 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AICDA

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 grc14378021_exome 12 rs2028373
dbSNP Clinvar
8757481 500.605 G A . 1/1 28 SYNONYMOUS_CODING LOW None 0.48423 0.48420 0.45065 None None None None None None AICDA|0.345530644|24.45%

AKAP3

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 grc14378021_exome 12 rs2072358
dbSNP Clinvar
4735737 50.3882 A G . 0/1 29 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.24789 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs2072355
dbSNP Clinvar
4737715 463.841 C T . 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.70547 0.70550 0.26203 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs2072356
dbSNP Clinvar
4737459 385.054 C T . 1/1 21 SYNONYMOUS_CODING LOW None 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs7960207
dbSNP Clinvar
4737318 1484.13 A G . 1/1 48 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs7972737
dbSNP Clinvar
4737042 1484.13 G A . 0/1 57 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.37567 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs10774251
dbSNP Clinvar
4736690 181.418 A G . 1/1 17 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs11063266
dbSNP Clinvar
4736677 70.9842 G C . 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.05090 0.32 0.00 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs11063265
dbSNP Clinvar
4736631 48.9691 A G . 1/1 10 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View grc14378021_exome 12 rs1990312
dbSNP Clinvar
4736495 1484.13 C T . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.98283 0.98280 0.02299 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%

ALDH1L2

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 grc14378021_exome 12 rs4964317
dbSNP Clinvar
105433523 1484.13 T A . 0/1 46 SYNONYMOUS_CODING LOW None 0.31050 0.31050 0.31808 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%
View grc14378021_exome 12 rs11112330
dbSNP Clinvar
105434467 317.032 C T . 0/1 52 SYNONYMOUS_CODING LOW None 0.30491 0.30490 0.31040 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%

ALG10B

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 grc14378021_exome 12 rs6582584
dbSNP Clinvar
38712142 1484.13 C G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.96665 0.96670 0.03383 1.00 0.00 None None None None None None ALG10B|0.041656471|65.23%
View grc14378021_exome 12 rs35518352
dbSNP Clinvar
38715000 144.597 A G . 0/1 29 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%

AMDHD1

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 grc14378021_exome 12 rs7955450
dbSNP Clinvar
96337183 1484.13 A G . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.71845 0.71850 0.56 0.00 None None None None None None AMDHD1|0.4419198|18.57%

ANKLE2

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 grc14378021_exome 12 rs7968520
dbSNP Clinvar
133331459 1484.13 G C . 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.10264 0.10260 0.11191 0.37 0.21 None None None None None None ANKLE2|0.0109485|80.11%

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 grc14378021_exome 12 rs697634
dbSNP Clinvar
52282060 536.865 C T . 0/1 39 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%
View grc14378021_exome 12 rs7303030
dbSNP Clinvar
52284483 1484.13 A G . 0/1 119 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.17246 None None None None None None ANKRD33|0.021337609|73.52%
View grc14378021_exome 12 rs12368048
dbSNP Clinvar
52284668 1484.13 C A . 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.18353 0.00 0.93 None None None None None None ANKRD33|0.021337609|73.52%
View grc14378021_exome 12 rs35680116
dbSNP Clinvar
52284447 1484.13 C T . 0/1 95 SYNONYMOUS_CODING LOW None 0.01757 0.01757 0.05059 None None None None None None ANKRD33|0.021337609|73.52%
View grc14378021_exome 12 rs697636
dbSNP Clinvar
52282873 1484.13 A T . 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.32388 0.32390 0.26403 0.05 0.96 None None None None None None ANKRD33|0.021337609|73.52%

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 grc14378021_exome 12 rs1274490
dbSNP Clinvar
56649601 1484.13 A G . 1/1 36 SYNONYMOUS_CODING LOW None 0.80631 0.80630 0.20515 None None None None None None ANKRD52|0.243975122|32.09%
View grc14378021_exome 12 rs808919
dbSNP Clinvar
56647911 1484.13 G C . 1/1 50 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%

ANKS1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378021_exome 12 rs1552759
dbSNP Clinvar
99640557 25.6225 T C . 0/1 13 SYNONYMOUS_CODING LOW None 0.63219 0.63220 0.43523 None None None None None None ANKS1B|0.915391472|3.1%

ANO2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378021_exome 12 rs3741902
dbSNP Clinvar
6030302 1484.13 T C . 0/1 35 SYNONYMOUS_CODING LOW None 0.14736 0.14740 0.16035 None None None None None None ANO2|0.232649133|33.14%
View grc14378021_exome 12 rs2277398
dbSNP Clinvar
5674754 1484.13 G A . 0/1 69 SYNONYMOUS_CODING LOW None 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%
View grc14378021_exome 12 rs3741903
dbSNP Clinvar
6030405 1484.13 A G . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.16016 0.91 0.00 None None None None None None ANO2|0.232649133|33.14%

ANO4

Omim - GeneCards - NCBI
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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 grc14378021_exome 12 rs1055734
dbSNP Clinvar
101520689 18.9687 A G . 0/1 9 SYNONYMOUS_CODING LOW None 0.14717 0.14720 0.13732 None None None None None None ANO4|0.60629619|11.58%

ANP32D

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 grc14378021_exome 12 rs7956679
dbSNP Clinvar
48866585 50.3995 A C . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.29034 0.29030 0.09519 1.00 0.00 None None None None None None ANP32D|0.00124455|94.2%
View grc14378021_exome 12 rs7966826
dbSNP Clinvar
48866792 171.815 C T . 0/1 40 SYNONYMOUS_CODING LOW None 0.29034 0.29030 0.09519 None None None None None None ANP32D|0.00124455|94.2%

APOBEC1

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378021_exome 12 rs2302515
dbSNP Clinvar
7805236 464.438 C G . 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.65915 0.65910 0.22128 0.46 0.00 None None None None None None APOBEC1|0.005430298|85.3%
View grc14378021_exome 12 rs10431309
dbSNP Clinvar
7803646 93.7258 G A . 0/1 19 SYNONYMOUS_CODING LOW None 0.24201 0.24200 0.20844 None None None None None None APOBEC1|0.005430298|85.3%

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 grc14378021_exome 12 rs2293643
dbSNP Clinvar
105600935 48.2905 G A . 0/1 16 SYNONYMOUS_CODING LOW None 0.18351 0.18350 0.16023 None None None None None None APPL2|0.118101014|47.72%
View grc14378021_exome 12 rs935240
dbSNP Clinvar
105568176 1484.13 G A . 0/1 58 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View grc14378021_exome 12 rs2272495
dbSNP Clinvar
105583877 1484.13 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.18730 0.18730 0.22 0.14 None None None None None None APPL2|0.118101014|47.72%
View grc14378021_exome 12 rs935241
dbSNP Clinvar
105568122 1484.13 G A . 0/1 54 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%

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 grc14378021_exome 12 rs61733029
dbSNP Clinvar
50344652 1484.13 G A . 0/1 134 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00500 None None None None None None AQP2|0.155383896|42.24%
View grc14378021_exome 12 rs426496
dbSNP Clinvar
50348078 1484.13 T C,A . 1/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

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 grc14378021_exome 12 rs12122
dbSNP Clinvar
49334762 17.2499 G C . 1/1 4 SYNONYMOUS_CODING LOW None 0.92312 0.92310 0.09227 None None None None None None ARF3|0.720861562|7.96%

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 grc14378021_exome 12 rs11544238
dbSNP Clinvar
57870155 1484.13 A C . 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 0.48939 0.20 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%

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 grc14378021_exome 12 rs4703
dbSNP Clinvar
15095558 1484.13 C G . 0/1 138 SYNONYMOUS_CODING LOW None 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%
View grc14378021_exome 12 rs2430711
dbSNP Clinvar
15103605 1484.13 A G . 1/1 79 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

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 grc14378021_exome 12 rs1861698
dbSNP Clinvar
14993854 386.578 A G . 0/1 27 SYNONYMOUS_CODING LOW None 0.25619 0.25620 0.34284 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View grc14378021_exome 12 rs3088189
dbSNP Clinvar
14993608 399.721 G A . 0/1 36 SYNONYMOUS_CODING LOW None 0.29273 0.29270 0.35591 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View grc14378021_exome 12 rs11276
dbSNP Clinvar
14993439 1484.13 C T . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.29273 0.29270 0.35599 1.00 0.00 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%

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 grc14378021_exome 12 rs653576
dbSNP Clinvar
50452708 1484.13 C G . 1/1 31 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%

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 grc14378021_exome 12 rs1129406
dbSNP Clinvar
51203371 950.653 C T . 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

ATF7

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 grc14378021_exome 12 rs33921258
dbSNP Clinvar
53946410 1484.13 G A . 0/1 47 SYNONYMOUS_CODING LOW None 0.04253 0.04253 0.07977 None None None None None None ATF7|0.474274586|17%

ATF7IP

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 grc14378021_exome 12 rs3213764
dbSNP Clinvar
14587301 1484.13 A G . 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.42242 0.01 0.49 None None None None None None ATF7IP|0.114905203|48.34%

ATN1

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 grc14378021_exome 12 . 7045891 14.8572 ACAG A,... . 0/1 67 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View grc14378021_exome 12 rs7969685
dbSNP Clinvar
7047143 135.946 C A . 0/1 23 SYNONYMOUS_CODING LOW None 0.16254 0.16250 0.26462 None None None None None None ATN1|0.702926343|8.41%

ATP2A2

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 grc14378021_exome 12 rs140234740
dbSNP Clinvar
110784210 144.573 A G . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00062 0.27 0.00 None None None None None None ATP2A2|0.319412756|26.18%

ATXN7L3B

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 grc14378021_exome 12 rs590352
dbSNP Clinvar
74932159 1484.13 G C . 1/1 84 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.37976 None None None None None None ATXN7L3B|0.065423029|58.5%

AVIL

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 grc14378021_exome 12 rs2172521
dbSNP Clinvar
58204283 1484.13 T C . 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%

B3GNT4

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 grc14378021_exome 12 rs4758675
dbSNP Clinvar
122691738 1484.13 C A . 1/1 50 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00738 None None None None None None B3GNT4|0.02304241|72.69%

BCL2L14

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 grc14378021_exome 12 rs879732
dbSNP Clinvar
12240199 1188.97 C T . 1/1 27 SYNONYMOUS_CODING LOW None 0.46486 0.46490 0.48032 None None None None None None BCL2L14|0.005004666|85.81%
View grc14378021_exome 12 rs145041635
dbSNP Clinvar
12247750 187.413 C T . 0/1 25 SYNONYMOUS_CODING LOW None None None None None None None BCL2L14|0.005004666|85.81%
View grc14378021_exome 12 rs11054683
dbSNP Clinvar
12247616 124.487 T C . 1/1 15 SYNONYMOUS_CODING LOW None 0.16014 0.16010 0.23443 None None None None None None BCL2L14|0.005004666|85.81%

BCL7A

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 grc14378021_exome 12 rs2272132
dbSNP Clinvar
122468687 1484.13 C T . 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03454 0.03454 0.03437 None None None None None None BCL7A|0.16853865|40.51%

BEST3

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 grc14378021_exome 12 rs775429
dbSNP Clinvar
70091432 384.968 T C . 1/1 21 SYNONYMOUS_CODING LOW None 0.97324 0.97320 0.02361 None None None None None None BEST3|0.093001289|52.62%

BICD1

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 grc14378021_exome 12 rs34447944
dbSNP Clinvar
32481369 25.7621 C T . 0/1 13 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.06228 None None None None None None BICD1|0.069048609|57.71%

BIN2

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 grc14378021_exome 12 rs7954976
dbSNP Clinvar
51681903 1484.13 T C . 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.19537 1.00 0.00 None None None None None None BIN2|0.023359336|72.5%
View grc14378021_exome 12 rs3210837
dbSNP Clinvar
51685831 150.373 T C . 1/1 16 SYNONYMOUS_CODING LOW None 0.78115 0.78120 0.22928 None None None None None None BIN2|0.023359336|72.5%

BTBD11

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 grc14378021_exome 12 rs9919712
dbSNP Clinvar
108035903 1484.13 T C . 0/1 61 SYNONYMOUS_CODING LOW None 0.19569 0.19570 0.23566 None None None None None None BTBD11|0.286570373|28.6%
View grc14378021_exome 12 . 108004127 18.3862 G T . 0/1 11 STOP_GAINED HIGH None None None None None None None BTBD11|0.286570373|28.6%

C12orf10

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 grc14378021_exome 12 rs1534282
dbSNP Clinvar
53700848 1484.13 C T . 1/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.96885 0.96880 0.03522 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%
View grc14378021_exome 12 rs711316
dbSNP Clinvar
53700860 1484.13 A G . 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.06020 0.37 0.00 None None None None None None C12orf10|0.308047855|26.99%
View grc14378021_exome 12 rs1534284
dbSNP Clinvar
53693532 318.248 A G . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.05984 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%
View grc14378021_exome 12 rs1534283
dbSNP Clinvar
53693533 318.838 A C . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.06006 0.21 0.00 None None None None None None C12orf10|0.308047855|26.99%

C12orf29

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 grc14378021_exome 12 rs9262
dbSNP Clinvar
88440676 1484.13 G C . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.51058 0.51060 0.46917 1.00 0.00 None None None None None None C12orf29|0.429935486|19.14%

C12orf36

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 grc14378021_exome 12 rs17821405
dbSNP Clinvar
13526328 18.9681 G T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.23323 0.23320 0.29064 0.05 None None None None None None LINC01559|0.001446195|93.05%

C12orf42

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 grc14378021_exome 12 rs10778257
dbSNP Clinvar
103872172 1484.13 T G . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.42020 0.35 0.80 None None None None None None C12orf42|0.002743176|89.17%

C12orf43

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 grc14378021_exome 12 rs3751151
dbSNP Clinvar
121442199 193.512 T A . 0/1 24 SYNONYMOUS_CODING LOW None 0.25859 0.25860 0.31455 5.72 0.03 0.52688 D None None None None C12orf43|0.005778578|84.86%
View grc14378021_exome 12 rs2258227
dbSNP Clinvar
121454257 1484.13 T A . 1/1 143 START_GAINED LOW None 0.78474 0.78470 0.25142 None None None None None None C12orf43|0.005778578|84.86%