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Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABI3BP, ABTB1, AC022498.1, ACAD11, ACAP2, ACOX2, ACPP, ACTL6A, ACTR8, ACVR2B, ADAMTS9, ADCY5, ADIPOQ, AHSG, ALAS1, ALCAM, ALG1L, ALS2CL, AMOTL2, ANKRD28, ANKUB1, ANO10, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARPP21, ATG3, ATP13A4, ATP13A5, ATP2B2, ATR, ATXN7, B4GALT4, BCL6, BFSP2, BOC, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf27, C3orf30, C3orf33, C3orf38, C3orf49, C3orf52, C3orf70, CACNA1D, CACNA2D3, CADPS, CAMK1, CAMKV, CAND2, CASR, CAV3, CBLB, CCDC12, CCDC14, CCDC36, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCR8, CCRL2, CD200, CD200R1, CD200R1L, CD86, CD96, CDCP1, CDHR4, CEP19, CEP63, CEP70, CEP97, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CIDEC, CLASP2, CLCN2, CLDN1, CLDN16, CLEC3B, CLSTN2, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COLQ, COMMD2, COX17, CP, CPA3, CPN2, CPOX, CRELD1, CRYBG3, CSPG5, CSRNP1, CSTA, CTDSPL, CX3CR1, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCBLD2, DCLK3, DCP1A, DGKG, DHFRL1, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNASE1L3, DPH3, DPPA4, DRD3, DTX3L, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EIF2A, EIF4G1, EOGT, EPHA3, EPHA6, EPHB1, ESYT3, EXOG, EXOSC7, FAIM, FAM194A, FAM198A, FAM208A, FAM43A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FGD5, FLNB, FNDC3B, FRMD4B, FYCO1, FYTTD1, GATA2, GBE1, GFM1, GHSR, GK5, GLB1, GMNC, GMPPB, GMPS, GNB4, GNL3, GOLGA4, GOLGB1, GP5, GPR156, GPR62, GPR87, GPX1, GRAMD1C, GRM7, GTPBP8, GUCA1C, HACL1, HCLS1, HEG1, HEMK1, HGD, HHATL, HHLA2, HLTF, HPS3, HRG, HSPBAP1, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFRD2, IFT80, IGSF10, IGSF11, IL17RB, IL17RC, IL17RD, IL17RE, ILDR1, IMPG2, IP6K2, IQCB1, IQCF2, IQCF6, IQSEC1, IRAK2, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KBTBD12, KBTBD8, KCNMB2, KCNMB3, KIAA1524, KIAA2018, KIF15, KIF9, KLHL24, KLHL40, KNG1, KPNA1, KY, LAMB2, LAMP3, LARS2, LEPREL1, LINC01100, LIPH, LNP1, LPP, LRIG1, LRRC15, LRRC34, LRRC58, LRRN1, LSG1, LTF, LXN, MAATS1, MAGEF1, MAP3K13, MAP4, MAP6D1, MASP1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MFI2, MFN1, MFSD1, MINA, MLF1, MON1A, MORC1, MST1, MST1R, MUC13, MUC20, MUC4, MYLK, MYNN, MYRIP, NAALADL2, NBEAL2, NEK11, NEK4, NFKBIZ, NISCH, NKTR, NLGN1, NME9, NMNAT3, NPHP3, NR1D2, NR1I2, NR2C2, NRROS, NT5DC2, NUP210, OGG1, OR5AC1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5H8P, OSBPL10, OTOL1, OXNAD1, OXTR, P2RY12, P2RY13, P2RY14, PARL, PARP14, PARP15, PARP3, PBRM1, PCYT1A, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PHF7, PHLDB2, PIGZ, PIK3R4, PLCD1, PLCH1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLXNA1, PLXNB1, PLXND1, PODXL2, POGLUT1, POLQ, POMGNT2, POPDC2, PP2D1, PPP2R3A, PPP4R2, PRICKLE2, PRKCD, PRKCI, PROS1, PRR23A, PRRT3, PSMD2, PTH1R, PTPN23, PTPRG, PTX3, PYDC2, RAB5A, RAD18, RARRES1, RASA2, RBM5, RBM6, RETNLB, RFT1, RNF123, RNF13, RNF168, ROBO1, ROBO2, RP11-3B7.1, RP11-433C9.2, RP11-553A10.1, RP11-723O4.6, RPL14, RPL29, RPN1, RPSA, RTP2, RTP4, RYBP, SACM1L, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEC22C, SEMA3F, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SETD2, SETMAR, SH3BP5, SI, SIDT1, SKIL, SLC12A8, SLC22A14, SLC25A26, SLC25A38, SLC2A2, SLC33A1, SLC35G2, SLC41A3, SLC4A7, SLC51A, SLC6A11, SLC6A20, SLC7A14, SLC9C1, SMARCC1, SPATA16, SPCS1, SPICE1, SPSB4, SRGAP3, SSUH2, STAB1, STAC, STAG1, STXBP5L, SUCLG2, SUMF1, SUSD5, TAMM41, TATDN2, TBC1D5, TDGF1, TF, TFG, THRB, THUMPD3, TKT, TLR9, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM108, TMEM110-MUSTN1, TMEM158, TMEM207, TMEM43, TMEM44, TMF1, TMIE, TMPRSS7, TNFSF10, TNIK, TNK2, TOP2B, TOPAZ1, TOPBP1, TP63, TPRXL, TRAK1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRNT1, TSC22D2, TTC14, TTC21A, TTLL3, TXNRD3, ULK4, UPK1B, UROC1, VEPH1, VGLL4, VILL, VIPR1, VPS8, WDR52, WDR53, XIRP1, XPC, XYLB, YEATS2, ZBBX, ZBTB47, ZCWPW2, ZDHHC19, ZIC4, ZKSCAN7, ZNF148, ZNF385D, ZNF501, ZNF502, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZPLD1, ZXDC,

Genes at Omim

ACOX2, ACVR2B, ADCY5, ADIPOQ, AHSG, ANO10, ARHGAP31, ATP2B2, ATR, ATXN7, BCL6, BFSP2, BTD, CACNA1D, CASR, CAV3, CCDC39, CCDC50, CD96, CEP19, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CLDN16, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CSTA, CX3CR1, DAG1, DAZL, DNAH1, DNAJB11, DNASE1L3, DRD3, DZIP1L, EIF4G1, EOGT, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNB4, GPX1, HGD, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, JAGN1, KALRN, KLHL24, KLHL40, KNG1, KY, LAMB2, LARS2, LIPH, LPP, MASP1, MCCC1, MCM2, MECOM, MLF1, MST1R, MYLK, NBEAL2, NPHP3, OGG1, P2RY12, PCYT1A, PDHB, PLCD1, PLOD2, POGLUT1, POMGNT2, PRKCD, PROS1, RFT1, RNF168, ROBO2, RPSA, SCN10A, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC25A38, SLC2A2, SLC33A1, SLC6A20, SLC7A14, SPATA16, STAG1, SUMF1, TDGF1, TF, TFG, THRB, TKT, TMEM43, TMIE, TNIK, TP63, TRAK1, TREX1, TRH, TRNT1, UROC1, XPC, ZNF148,
ACOX2 Bile acid synthesis defect, congenital, 6, 617308 (3)
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
ADIPOQ Adiponectin deficiency, 612556 (3)
AHSG ?Alopecia-mental retardation syndrome 1, 203650 (3)
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCL6 Lymphoma, B-cell (2)
BFSP2 Cataract 12, multiple types, 611597 (3)
BTD Biotinidase deficiency, 253260 (3)
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CAV3 Cardiomyopathy, familial hypertrophic, 192600 (3)
Creatine phosphokinase, elevated serum, 123320 (3)
Long QT syndrome 9, 611818 (3)
Myopathy, distal, Tateyama type, 614321 (3)
Rippling muscle disease 2, 606072 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC50 ?Deafness, autosomal dominant 44, 607453 (3)
CD96 C syndrome, 211750 (3)
CEP19 Morbid obesity and spermatogenic failure, 615703 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CIDEC ?Lipodystrophy, familial partial, type 5, 615238 (3)
CLCN2 Hyperaldosteronism, familial, type II, 605635 (3)
Leukoencephalopathy with ataxia, 615651 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
CNBP Myotonic dystrophy 2, 602668 (3)
COL7A1 EBD inversa, 226600 (3)
EBD, Bart type, 132000 (3)
EBD, localisata variant (3)
Epidermolysis bullosa dystrophica, AD, 131750 (3)
Epidermolysis bullosa dystrophica, AR, 226600 (3)
Epidermolysis bullosa pruriginosa, 604129 (3)
Epidermolysis bullosa, pretibial, 131850 (3)
Toenail dystrophy, isolated, 607523 (3)
Transient bullous of the newborn, 131705 (3)
COLQ Myasthenic syndrome, congenital, 5, 603034 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CSTA Peeling skin syndrome 4, 607936 (3)
CX3CR1 {Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Coronary artery disease, resistance to}, 607339 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DAZL {Spermatogenic failure, susceptibility to} (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
DNAJB11 Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3)
DNASE1L3 Systemic lupus erythematosus 16, 614420 (3)
DRD3 {Essential tremor, hereditary, 1}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
EOGT Adams-Oliver syndrome 4, 615297 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GATA2 {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 (3)
GHSR Growth hormone deficiency, isolated partial, 615925 (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HGD Alkaptonuria, 203500 (3)
HPS3 Hermansky-Pudlak syndrome 3, 614072 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
ILDR1 Deafness, autosomal recessive 42, 609646 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LIPH Hypotrichosis 7, 604379 (3)
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
LPP Leukemia, acute myeloid, 601626 (3)
Lipoma (3)
MASP1 3MC syndrome 1, 257920 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCM2 ?Deafness, autosomal dominant 70, 616968 (3)
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
NPHP3 Meckel syndrome 7, 267010 (3)
Nephronophthisis 3, 604387 (3)
Renal-hepatic-pancreatic dysplasia 1, 208540 (3)
OGG1 Renal cell carcinoma, clear cell, somatic, 144700 (3)
P2RY12 Bleeding disorder, platelet-type, 8, 609821 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PLOD2 Bruck syndrome 2, 609220 (3)
POGLUT1 Dowling-Degos disease 4, 615696 (3)
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3)
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
RFT1 Congenital disorder of glycosylation, type In, 612015 (3)
RNF168 RIDDLE syndrome, 611943 (3)
ROBO2 Vesicoureteral reflux 2, 610878 (3)
RPSA Asplenia, isolated congenital, 271400 (3)
SCN10A Episodic pain syndrome, familial, 2, 615551 (3)
SCN11A Episodic pain syndrome, familial, 3, 615552 (3)
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A26 Combined oxidative phosphorylation deficiency 28, 616794 (3)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC33A1 Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Spastic paraplegia 42, autosomal dominant, 612539 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC7A14 Retinitis pigmentosa 68, 615725 (3)
SPATA16 ?Spermatogenic failure 6, 102530 (3)
STAG1 Mental retardation, autosomal dominant 47, 617635 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFG Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)
?Spastic paraplegia 57, autosomal recessive, 615658 (3)
THRB Thyroid hormone resistance, 188570 (3)
Thyroid hormone resistance, autosomal recessive, 274300 (3)
Thyroid hormone resistance, selective pituitary, 145650 (3)
TKT Short stature, developmental delay, and congenital heart defects, 617044 (3)
TMEM43 Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TNIK Mental retardation, autosomal recessive 54, 617028 (3)
TP63 Hay-Wells syndrome, 106260 (3)
ADULT syndrome, 103285 (3)
Limb-mammary syndrome, 603543 (3)
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)
Orofacial cleft 8, 618149 (3)
Rapp-Hodgkin syndrome, 129400 (3)
Split-hand/foot malformation 4, 605289 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)
TREX1 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Chilblain lupus, 610448 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)
TRH Thyrotropin-releasing hormone deficiency, 275120 (1)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
UROC1 ?Urocanase deficiency, 276880 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)
ZNF148 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)

Genes at Clinical Genomics Database

ACVR2B, ADCY5, ALS2CL, ANO10, ARHGAP31, ATR, ATXN7, BFSP2, BTD, CACNA1D, CASR, CAV3, CCDC14, CCDC39, CCDC50, CD96, CEP19, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CLDN16, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CSTA, DAG1, DNAH1, DNAJC13, DNASE1L3, EIF4G1, EOGT, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNB4, HGD, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, KNG1, LAMB2, LARS2, LIPH, MASP1, MCCC1, MECOM, MYLK, NBEAL2, NPHP3, P2RY12, PBRM1, PCYT1A, PDHB, PLCD1, PLOD2, POGLUT1, POMGNT2, PRICKLE2, PRKCD, PROS1, PTH1R, RFT1, RNF168, ROBO2, RPSA, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC25A38, SLC2A2, SLC33A1, SLC6A20, SLC7A14, SPATA16, SUMF1, TDGF1, TF, TFG, THRB, TMEM43, TMIE, TP63, TREX1, TRNT1, UROC1, XPC,
ACVR2B Heterotaxy, visceral, 4, autosomal
ADCY5 Dyskinesia, familial, with facial myokymia
ALS2CL Schizophrenia
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN7 Spinocerebellar ataxia 7
BFSP2 Cataract 12, multiple types
BTD Biotinidase deficiency
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CAV3 Cardiomyopathy, familial hypertrophic
Long QT syndrome 9
Creatine phosphokinase, elevated serum
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC39 Ciliary dyskinesia, primary, 14
CCDC50 Deafness, autosomal dominant 44
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CEP19 Morbid obesity and spermatogenic failure
CEP63 Seckel syndrome 6
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
CIDEC Lipodystrophy, familial partial, type 5
CLCN2 Epilepsy, idiopathic, generalized, susceptibility to, 11
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Leukoencephalopathy with ataxia
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CLDN16 Hypomagnesemia 3, renal
CNBP Myotonic dystrophy 2
COL7A1 Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, autosomal recessive
Epidermolysis bullosa dystrophica inversia
Epidermolysis bullosa pruriginosa
Nail disorder, nonsyndromic congenital, 8
Epidermolysis bullosa dystrophica, Bart type
Epidermolysis bullosa, pretibial
Transient bullous dermolysis of the newborn
COLQ Myasthenic syndrome, congenital 5
CP Aceruloplasminemia
Hypoceruloplasminemia
CPOX Coproporphyria
Harderoporphyria
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CSTA Peeling skin syndrome 4
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
DNAH1 Spermatogenic failure
DNAJC13 Parkinson disease 21
DNASE1L3 Systemic lupus erythematosus 16
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
EOGT Adams-Oliver syndrome 4
FANCD2 Fanconi anemia, complementation group D2
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
FYCO1 Cataract, autosomal recessive congenital 2
GATA2 Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Acute myeloid leukemia, familial
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
GBE1 Glycogen storage disease IV
GFM1 Combined oxidative phosphorylation deficiency 1
GHSR Short stature
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
HGD Alkaptonuria
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL17RC Candiasis, familial, 9
IL17RD Hypogonadotropic hypogonadism 18, with or without anosmia
ILDR1 Deafness, autosomal recessive 42
IMPG2 Retinitis pigmentosa 56
IQCB1 Senior-Loken syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
JAGN1 Neutropenia, severe congenital, 6
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
LAMB2 Pierson syndrome
Nephrotic syndrome, type 5, with or without ocular abnormalities
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
NPHP3 Nephronophthisis 3
Meckel syndrome 7
Renal-hepatic-pancreatic dysplasia
P2RY12 Bleeding disorder, platelet-type, 8
PBRM1 Clear cell renal cell carcinoma
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
PLCD1 Nail disorder, nonsyndromic congenital, 3
PLOD2 Bruck syndrome 2
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PRICKLE2 Epilepsy, progessive myoclonic 5
PRKCD Autoimmune lymphoproliferative syndrome type III
PROS1 Thrombophilia, hereditary, due to protein S deficiency
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
RFT1 Congenital disorder of glycosylation, type In
RNF168 RIDDLE syndrome
ROBO2 Congenital anomalies of the kidney and urinary tract
RPSA Asplenia, isolated congenital
SCN11A Episodic pain syndrome, familial, 3
Neuropathy, hereditary sensory and autonomic, type VI
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SETD2 Luscan-Lumish syndrome
SI Sucrase-isomaltase deficiency, congenital
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC2A2 Fanconi-Bickel syndrome
Glycogen storage disease XI
Neonatal diabetes mellitus
SLC33A1 Congenital cataracts, hearing loss, and neurodegeneration
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC7A14 Retinitis pigmentosa 68
SPATA16 Spermatogenic failure 6
SUMF1 Multiple sulfatase deficiency
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFG Hereditary motor and sensory neuropathy, proximal type
Spastic paraplegia 57
THRB Thyroid hormone resistance, general
Thyroid hormone resistance, selective pituitary
TMEM43 Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7
TMIE Deafness, autosomal recessive 6
TP63 Split-hand/foot malformation 4
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Limb-mammary syndrome
Rapp-Hodgkin syndrome
Orofacial cleft 8
ADULT syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate
TREX1 Chilblain lupus 1
Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi-Goutieres syndrome 1
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
UROC1 Urocanase deficiency
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 12213
Number of Genes: 518

Export to: CSV
  • Page 1 of 123

A4GNT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs2724691
dbSNP Clinvar
137850003 2431.77 A G PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.35399 None None None None None None A4GNT|0.020635171|73.87%
View snps raw-variants selected 3 rs2170309
dbSNP Clinvar
137843106 2858.77 T C PASS 0/1 200 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%
View snps raw-variants selected 3 rs79791762
dbSNP Clinvar
137849888 2537.77 C T PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.01218 0.01218 0.02091 0.30 0.62 3.68 None None None None None None A4GNT|0.020635171|73.87%
View snps raw-variants selected 3 rs2246945
dbSNP Clinvar
137843476 2837.77 G T PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.65375 0.65380 0.33946 0.93 0.00 0.02 None None None None None None A4GNT|0.020635171|73.87%

AADAC

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 snps raw-variants selected 3 rs1803155
dbSNP Clinvar
151545601 7221.77 G A PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.73443 0.73440 0.22189 0.04 0.24 4.05 None None None None None None AADAC|0.00221398|90.39%

AADACL2

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 snps raw-variants selected 3 rs1972977
dbSNP Clinvar
151463421 5146.77 G T PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.70667 0.70670 0.30183 1.00 0.01 -2.21 None None None None None None AADACL2|0.001976057|91.06%

ABCC5

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 snps raw-variants selected 3 rs939336
dbSNP Clinvar
183685534 3484.77 A G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View snps raw-variants selected 3 rs1132776
dbSNP Clinvar
183696402 2934.77 A G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%
View snps raw-variants selected 3 rs7636910
dbSNP Clinvar
183699516 2732.77 T C PASS 1/1 76 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%

ABCF3

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 snps raw-variants selected 3 rs11539876
dbSNP Clinvar
183904049 6440.77 A G PASS 1/1 191 SYNONYMOUS_CODING LOW None 0.17252 0.17250 0.14247 None None None None None None EIF2B5|0.736636231|7.47%,ABCF3|0.210006842|35.58%

ABI3BP

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 snps raw-variants selected 3 rs10936352
dbSNP Clinvar
100473505 1984.77 C T PASS 0/1 179 SYNONYMOUS_CODING LOW None 0.29094 0.29090 0.31592 None None None None None None ABI3BP|0.072954425|56.79%
View snps raw-variants selected 3 rs2245370
dbSNP Clinvar
100617680 3243.77 C T PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.72804 0.72800 0.43846 None None None None None None ABI3BP|0.072954425|56.79%

ABTB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs35703629
dbSNP Clinvar
127394820 430.77 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.11522 0.11520 0.16818 None None None None None None ABTB1|0.075523365|56.17%

AC022498.1

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 snps raw-variants selected 3 rs13096615
dbSNP Clinvar
187897059 1950.77 G A PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.55212 0.55210 0.47394 0.00 None None None None None None LPP|0.866185415|4.34%

ACAD11

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 snps raw-variants selected 3 rs821572
dbSNP Clinvar
132360883 4106.77 C T PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%

ACAP2

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 snps raw-variants selected 3 rs6437374
dbSNP Clinvar
195076877 1974.77 C G PASS 0/1 129 None None None 0.44449 0.44450 0.03 0.00 None None None None None None ACAP2|0.547774722|13.85%

ACOX2

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 snps raw-variants selected 3 rs1127745
dbSNP Clinvar
58512237 683.77 A G PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.27741 None None None None None None ACOX2|0.021941785|73.2%
View snps raw-variants selected 3 rs1127743
dbSNP Clinvar
58512375 356.77 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.16334 0.16330 0.12986 None None None None None None ACOX2|0.021941785|73.2%
View snps raw-variants selected 3 rs57216393
dbSNP Clinvar
58517520 1377.77 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.07089 0.07089 0.08212 None None None None None None ACOX2|0.021941785|73.2%

ACPP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs3181784
dbSNP Clinvar
132075554 1029.77 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.36399 None None None None None None ACPP|0.270639599|29.85%
View snps raw-variants selected 3 rs2228402
dbSNP Clinvar
132068831 703.77 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.39557 0.39560 0.49969 None None None None None None ACPP|0.270639599|29.85%
View snps raw-variants selected 3 rs2071505
dbSNP Clinvar
132075707 1800.77 A G PASS 0/1 122 None None None 0.39617 0.39620 0.49946 None None None None None None ACPP|0.270639599|29.85%

ACTL6A

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 snps raw-variants selected 3 rs1132429
dbSNP Clinvar
179298999 7058.77 C T PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.68051 0.68050 0.39751 None None None None None None ACTL6A|0.89447236|3.58%

ACTR8

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs1046677
dbSNP Clinvar
53905308 3706.77 T C PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.69229 0.69230 0.48116 None None None None None None ACTR8|0.331819735|25.35%
View snps raw-variants selected 3 rs4687757
dbSNP Clinvar
53906513 4235.77 G A PASS 1/1 123 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%
View snps raw-variants selected 3 rs3733082
dbSNP Clinvar
53914093 1585.77 G A PASS 0/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10743 0.10740 0.05621 0.40 0.17 3.20 None None None None None None ACTR8|0.331819735|25.35%

ACVR2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs2070489
dbSNP Clinvar
38519424 3010.77 A G PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%
View snps raw-variants selected 3 rs1046048
dbSNP Clinvar
38524742 5698.77 C T PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.35324 0.35320 0.43857 None None None None None None ACVR2B|0.559847657|13.37%

ADAMTS9

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 snps raw-variants selected 3 rs61754854
dbSNP Clinvar
64507913 1828.77 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00738 None None None None None None ADAMTS9|0.249096385|31.58%
View snps raw-variants selected 3 rs6771712
dbSNP Clinvar
64587818 1532.77 G A PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.05851 0.05851 0.09380 None None None None None None ADAMTS9|0.249096385|31.58%

ADCY5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs373154919
dbSNP Clinvar
123044256 2976.77 G A PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None ADCY5|0.611756901|11.41%
View snps raw-variants selected 3 rs4678027
dbSNP Clinvar
123167249 1810.77 G A PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

ADIPOQ

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs17366743
dbSNP Clinvar
186572089 3072.77 T C PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.02376 0.49 0.01 1.18 None None None None None None ADIPOQ|0.239416973|32.49%

AHSG

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 snps raw-variants selected 3 rs1071592
dbSNP Clinvar
186338425 6419.77 A C PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%
View snps raw-variants selected 3 rs4918
dbSNP Clinvar
186338382 6045.77 G C PASS 1/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.71366 0.71370 0.34261 0.36 0.00 -1.79 None None None None None None AHSG|0.045377146|64.1%
View snps raw-variants selected 3 rs4917
dbSNP Clinvar
186337713 3731.77 T C PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.73542 0.73540 0.31493 1.00 0.00 -1.94 None None None None None None AHSG|0.045377146|64.1%

ALAS1

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 snps raw-variants selected 3 rs352168
dbSNP Clinvar
52237970 1751.77 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.47263 None None None None None None ALAS1|0.153297782|42.48%

ALCAM

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 snps raw-variants selected 3 rs1044243
dbSNP Clinvar
105260520 1872.77 C T PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.05212 0.05212 0.08742 0.07 0.05 4.26 None None None None None None ALCAM|0.549351292|13.76%
View snps raw-variants selected 3 rs599278
dbSNP Clinvar
105260596 3198.81 T C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%
View snps raw-variants selected 3 rs9855810
dbSNP Clinvar
105266331 1472.77 A G PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.05152 0.05152 0.08728 None None None None None None ALCAM|0.549351292|13.76%

ALG1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs3828357
dbSNP Clinvar
125648356 827.77 T C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.32677 0.03 0.16 0.92 None None None None None None ALG1L|0.003997673|87.03%

ALS2CL

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 snps raw-variants selected 3 rs13080080
dbSNP Clinvar
46722692 5912.77 G T PASS 1/1 164 None None None 0.64876 0.64880 0.36123 None None None None None None ALS2CL|0.023531697|72.41%
View snps raw-variants selected 3 rs4683310
dbSNP Clinvar
46723551 1436.77 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.31310 0.31310 0.34115 None None None None None None ALS2CL|0.023531697|72.41%
View snps raw-variants selected 3 rs7642448
dbSNP Clinvar
46729757 1147.77 C G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.44848 0.44850 0.42134 0.19 0.69 2.63 None None None None None None ALS2CL|0.023531697|72.41%
View snps raw-variants selected 3 rs7625303
dbSNP Clinvar
46713457 2514.77 C G PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.25040 0.25040 0.19768 None None None None None None ALS2CL|0.023531697|72.41%

AMOTL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs202200117
dbSNP Clinvar
134085126 1555.77 T G PASS 0/1 133 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.00020 0.00008 0.00 0.83 6.19 0.03 0.5037 D None None None None AMOTL2|0.079628393|55.26%
View snps raw-variants selected 3 rs1353776
dbSNP Clinvar
134077470 2319.77 C G PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.26918 1.00 0.00 -2.16 None None None None None None AMOTL2|0.079628393|55.26%

ANKRD28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs2470549
dbSNP Clinvar
15737698 1902.77 T C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.41294 0.41290 0.47133 None None None None None None ANKRD28|0.433008795|19.04%
View snps raw-variants selected 3 rs2470548
dbSNP Clinvar
15737689 1972.77 G A PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%

ANKUB1

Omim - GeneCards - NCBI
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs7610425
dbSNP Clinvar
149485293 6800.77 T C PASS 1/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.26478 0.26480 0.33969 0.31 0.00 -0.87 None None None None None None ANKUB1|0.042457252|64.97%
View snps raw-variants selected 3 rs954714
dbSNP Clinvar
149479301 2102.77 C T PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.52057 0.52060 None None None None None None ANKUB1|0.042457252|64.97%

ANO10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs6441771
dbSNP Clinvar
43414318 3988.77 A G PASS 1/1 120 None None None 0.98143 0.98140 0.33 0.00 -0.32 None None None None None None SNRK|0.096657733|51.77%,ANO10|0.098739999|51.41%
View snps raw-variants selected 3 rs3772165
dbSNP Clinvar
43602803 5820.77 C T PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.66314 0.66310 0.44310 0.54 0.00 1.71 None None None None None None ANO10|0.098739999|51.41%
View snps raw-variants selected 3 . 43647290 1685.77 C A PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.13 4.57 0.05 0.63323 D None None None None ANO10|0.098739999|51.41%

ARGFX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs9813391
dbSNP Clinvar
121304933 1338.77 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.17113 0.17110 0.22943 0.77 0.00 -0.27 None None None None None None ARGFX|0.001850633|91.41%

ARHGAP31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs4688001
dbSNP Clinvar
119118104 4298.77 A G PASS 1/1 127 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ARHGAP31|0.196163887|37.14%
View snps raw-variants selected 3 rs61740281
dbSNP Clinvar
119133554 3057.77 G A PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.12711 None None None None None None ARHGAP31|0.196163887|37.14%
View snps raw-variants selected 3 rs3732413
dbSNP Clinvar
119133183 4744.77 G A PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.84565 0.84560 0.16839 1.00 0.00 -0.66 None None None None None None ARHGAP31|0.196163887|37.14%

ARHGEF26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs139430962
dbSNP Clinvar
153839806 1463.77 T A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00671 0.15 0.00 3.39 None None None None None None ARHGEF26|0.061409989|59.47%
View snps raw-variants selected 3 rs12493885
dbSNP Clinvar
153839866 6152.77 G C PASS 1/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.95927 0.95930 0.10090 1.00 0.00 0.73 None None None None None None ARHGEF26|0.061409989|59.47%
View snps raw-variants selected 3 rs12497267
dbSNP Clinvar
153839960 7161.77 T C PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.15953 0.71 0.00 0.01 None None None None None None ARHGEF26|0.061409989|59.47%
View snps raw-variants selected 3 rs59508481
dbSNP Clinvar
153839959 6911.77 C T PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.61801 0.61800 0.02696 0.13 0.00 0.64 None None None None None None ARHGEF26|0.061409989|59.47%

ARHGEF3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs3732508
dbSNP Clinvar
56835761 4243.77 G A PASS 1/1 125 None None None 0.32129 0.32130 0.39421 None None None None None None ARHGEF3|0.535419787|14.4%

ARPP21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs2278757
dbSNP Clinvar
35778773 1014.77 A G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.40815 0.40810 0.49338 None None None None None None ARPP21|0.628941513|10.81%
View snps raw-variants selected 3 rs2012153
dbSNP Clinvar
35779750 1465.77 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.35883 0.35880 None None None None None None ARPP21|0.628941513|10.81%
View snps raw-variants selected 3 rs969818
dbSNP Clinvar
35725250 1266.77 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%

ATG3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar
112253058 2759.73 C CA PASS 1/1 110 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%

ATP13A4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs3796181
dbSNP Clinvar
193183817 5047.77 A G PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.55411 0.55410 0.48954 None None None None None None ATP13A4|0.189604914|37.86%
View snps raw-variants selected 3 rs59451116
dbSNP Clinvar
193180592 6950.77 G A PASS 1/1 200 SYNONYMOUS_CODING LOW None 0.29493 0.29490 0.22274 None None None None None None ATP13A4|0.189604914|37.86%
View snps raw-variants selected 3 rs6788448
dbSNP Clinvar
193209178 4054.77 T C PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.47145 0.47140 0.44180 0.04 0.99 4.02 None None None None None None ATP13A4|0.189604914|37.86%
View snps raw-variants selected 3 rs2130407
dbSNP Clinvar
193210768 3666.77 A G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%

ATP13A5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs61753889
dbSNP Clinvar
193039597 1432.77 G A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.06709 0.06709 0.06789 None None None None None None ATP13A5|0.051025682|62.36%
View snps raw-variants selected 3 rs6788770
dbSNP Clinvar
193036794 747.77 G C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%
View snps raw-variants selected 3 rs148224926
dbSNP Clinvar
193081961 1984.73 TC T PASS 0/1 104 FRAME_SHIFT HIGH None 0.00120 0.00120 0.00752 None None None None None None ATP13A5|0.051025682|62.36%
View snps raw-variants selected 3 rs11926955
dbSNP Clinvar
193042776 1363.77 T C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%
View snps raw-variants selected 3 rs2271791
dbSNP Clinvar
192994543 197.77 A G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.33227 0.33230 0.36906 0.11 0.01 3.02 None None None None None None HRASLS|0.039427582|65.97%,ATP13A5|0.051025682|62.36%
View snps raw-variants selected 3 rs12637558
dbSNP Clinvar
193081122 1683.77 G T PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.41594 0.41590 0.36998 0.04 0.37 4.51 None None None None None None ATP13A5|0.051025682|62.36%
View snps raw-variants selected 3 rs6797429
dbSNP Clinvar
193080414 2952.77 C G PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.51378 0.51380 0.44895 1.00 0.00 0.15 None None None None None None ATP13A5|0.051025682|62.36%

ATP2B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs35678
dbSNP Clinvar
10379923 3595.77 C T PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%
View snps raw-variants selected 3 rs2289274
dbSNP Clinvar
10413715 6458.77 G A PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.25788 None None None None None None ATP2B2|0.393540983|21.16%
View snps raw-variants selected 3 rs13084776
dbSNP Clinvar
10443827 6812.77 G C PASS 1/1 198 SYNONYMOUS_CODING LOW None 0.16933 0.16930 0.18684 None None None None None None ATP2B2|0.393540983|21.16%

ATR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs1802904
dbSNP Clinvar
142168331 7149.77 C T PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%
View snps raw-variants selected 3 rs2227930
dbSNP Clinvar
142277575 2608.77 A T PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%
View snps raw-variants selected 3 rs2227929
dbSNP Clinvar
142277536 2388.77 A G PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.31070 0.31070 0.34576 None None None None None None ATR|0.696057424|8.61%
View snps raw-variants selected 3 rs2227928
dbSNP Clinvar
142281612 2552.77 A G PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.59744 0.59740 0.33769 0.63 0.00 -0.11 None None None None None None ATR|0.696057424|8.61%
View snps raw-variants selected 3 rs2227931
dbSNP Clinvar
142222284 1570.77 A G PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.31250 0.31250 0.34957 None None None None None None ATR|0.696057424|8.61%

ATXN7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs1053338
dbSNP Clinvar
63967900 1558.77 A G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.11462 0.11460 0.09994 0.12 0.18 1.61 None None None None None None ATXN7|0.45901663|17.72%
View snps raw-variants selected 3 rs61736574
dbSNP Clinvar
63968083 1469.77 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.02017 0.02017 0.02607 0.96 0.00 -1.99 None None None None None None ATXN7|0.45901663|17.72%
View snps raw-variants selected 3 rs1053339
dbSNP Clinvar
63981424 3053.77 A G PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.02077 0.02077 0.02625 None None None None None None ATXN7|0.45901663|17.72%
View snps raw-variants selected 3 rs3774729
dbSNP Clinvar
63982082 7064.77 G A PASS 1/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.43770 0.43770 0.39069 1.00 0.00 0.47 None None None None None None ATXN7|0.45901663|17.72%

B4GALT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs4422294
dbSNP Clinvar
118948716 2743.77 G A PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22159 None None None None None None B4GALT4|0.059766507|59.94%

BCL6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs2229362
dbSNP Clinvar
187446211 1607.77 C T PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.18510 0.18510 0.23774 0.29 0.00 0.37 None None None None None None BCL6|0.913517921|3.15%
View snps raw-variants selected 3 rs1056932
dbSNP Clinvar
187447032 2849.77 G A PASS 0/1 190 SYNONYMOUS_CODING LOW None 0.56530 0.56530 0.49739 None None None None None None BCL6|0.913517921|3.15%

BFSP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs2276737
dbSNP Clinvar
133167363 1833.77 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.43650 0.43650 0.46402 None None None None None None BFSP2|0.103322772|50.53%
View snps raw-variants selected 3 rs79087781
dbSNP Clinvar
133191385 1145.77 C A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.03335 0.03335 0.04014 0.04 0.56 4.52 None None None None None None BFSP2|0.103322772|50.53%

BOC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3 rs147556461
dbSNP Clinvar
112993223 2261.77 C T PASS 0/1 164 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00338 None None None None None None BOC|0.066912228|58.17%
View snps raw-variants selected 3 rs11710894
dbSNP Clinvar
112991959 1774.77 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.29872 0.29870 0.18945 None None None None None None BOC|0.066912228|58.17%
View snps raw-variants selected 3 rs2649878
dbSNP Clinvar
112998265 5304.77 A G PASS 1/1 158 SYNONYMOUS_CODING LOW None 0.55871 0.55870 0.46171 None None None None None None BOC|0.066912228|58.17%
View snps raw-variants selected 3 rs775228
dbSNP Clinvar
112997554 3477.77 A G PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.62041 0.62040 0.45240 None None None None None None BOC|0.066912228|58.17%
View snps raw-variants selected 3 rs34600669
dbSNP Clinvar
113004240 1433.77 C T PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.04373 0.04373 0.02699 None None None None None None BOC|0.066912228|58.17%
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