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Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABI3BP, AC022498.1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACOX2, ACPL2, ACTL6A, ACTR8, ACVR2B, ADCY5, ADIPOQ, AGTR1, AHSG, ALCAM, ALDH1L1, ALS2CL, AMOTL2, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, ARHGAP31, ARHGEF26, ARHGEF3, ARL6IP5, ARPP21, ATP11B, ATP13A4, ATP13A5, ATP2B2, ATXN7, B4GALT4, BCL6, BOC, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf22, C3orf27, C3orf30, C3orf38, C3orf49, C3orf52, C3orf67, CACNA1D, CACNA2D3, CADPS, CAND2, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC51, CCDC54, CCDC66, CCDC71, CCR2, CCRL2, CD200, CD200R1, CD200R1L, CD86, CD96, CDCP1, CELSR3, CEP70, CEP97, CHDH, CHL1, CHMP2B, CHST13, CIDEC, CLDN1, CLEC3B, CLSTN2, CMSS1, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COMMD2, COX17, CP, CPA3, CPN2, CPOX, CRBN, CRELD1, CRTAP, CRYBG3, CSPG5, CSRNP1, CX3CR1, CYP8B1, DALRD3, DBR1, DCBLD2, DCLK3, DCP1A, DGKG, DHX36, DLEC1, DNAH1, DNAH12, DNAJB8, DNAJC13, DNASE1L3, DPH3, DPPA4, DRD3, DTX3L, DVL3, DYNC1LI1, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EIF2A, EIF2B5, EIF4A2, EIF4G1, ENTPD3, EOGT, EOMES, EPHA6, EPHB1, EXOSC7, FAIM, FAM107A, FAM194A, FAM198A, FAM208A, FAM43A, FANCD2, FBLN2, FBXW12, FGD5, FILIP1L, FLNB, FNDC3B, FRG2C, FRMD4B, FXR1, FYCO1, FYTTD1, GATA2, GBE1, GFM1, GHSR, GK5, GLB1, GMPPB, GMPS, GNAT1, GNB4, GOLGB1, GOLIM4, GP5, GP9, GPR149, GPR156, GPR62, GPX1, GRM7, GUCA1C, H1FOO, HACL1, HCLS1, HEG1, HEMK1, HGD, HHATL, HHLA2, HLTF, HPS3, HRG, HTR3C, HTR3D, HTR3E, IFT57, IFT80, IGSF10, IGSF11, IL17RB, IL17RC, IL17RD, IL1RAP, ILDR1, IMPG2, IP6K2, IQCB1, IQCG, IQSEC1, IRAK2, ITGA9, ITGB5, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KBTBD12, KCNAB1, KCNH8, KIAA1524, KIAA2018, KIF15, KIF9, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KRBOX1, KY, LAMP3, LARS2, LEKR1, LEPREL1, LIMD1, LINC01100, LIPH, LMCD1, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC31, LRRC34, LRRIQ4, LRRN1, LSG1, LTF, LXN, MAATS1, MAGI1, MAP3K13, MAP4, MAP6D1, MASP1, MBD4, MCCC1, MCF2L2, MCM2, MFN1, MFSD1, MINA, MLF1, MOBP, MORC1, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYL3, MYLK, MYNN, MYRIP, NAALADL2, NBEAL2, NCEH1, NCK1, NEK10, NEK11, NISCH, NME9, NPHP3, NR1I2, NRROS, NT5DC2, NUP210, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OSBPL10, OTOL1, OXNAD1, OXTR, P2RY1, P2RY12, PAQR9, PARP14, PARP15, PARP3, PARP9, PCYT1A, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PHF7, PIGZ, PIK3CB, PLA1A, PLCH1, PLCL2, PLD1, PLSCR1, PLSCR2, PLSCR4, PLXNA1, PLXNB1, PLXND1, PODXL2, POGLUT1, POLQ, POMGNT2, POPDC2, PP13439, PP2D1, PPARG, PRICKLE2, PRKCD, PROS1, PRR23A, PRR23B, PRRT3, PRSS45, PRSS50, PTH1R, PTPLB, PTPN23, PTPRG, PTX3, PVRL3, PYDC2, RAD18, RAF1, RASA2, RASSF1, RBM5, RBM6, RBMS3, RBP1, RFC4, RFTN1, RNF13, RNF168, ROBO1, ROPN1B, RP11-3B7.1, RP11-553A10.1, RPL14, RPN1, RPSA, RTP1, RTP4, RYBP, RYK, SAMD7, SCAP, SCN10A, SCN11A, SCN5A, SEMA3F, SEMA3G, SEMA5B, SENP2, SENP7, SERPINI2, SETD2, SGOL1, SI, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A14, SLC25A26, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC41A3, SLC4A7, SLC51A, SLC6A11, SLC6A20, SLC7A14, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SPICE1, SPSB4, SRPRB, SSR3, SSUH2, STAB1, SUCLG2, SUSD5, TAMM41, TATDN2, TBC1D5, TF, TGFBR2, TGM4, THUMPD3, TKT, TM4SF1, TM4SF4, TMCC1, TMEM108, TMEM110-MUSTN1, TMEM158, TMEM43, TMEM44, TMIE, TMPRSS7, TNIK, TNK2, TOMM70A, TOP2B, TOPAZ1, TOPBP1, TRAK1, TRANK1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TSC22D2, TTC21A, TTLL3, TXNRD3, UBP1, ULK4, UPK1B, VEPH1, VGLL4, VIPR1, VPS8, WDR49, WDR52, WDR53, WNT7A, XIRP1, XPC, XXYLT1, XYLB, YEATS2, ZBBX, ZBTB38, ZCWPW2, ZDHHC23, ZKSCAN7, ZNF148, ZNF385D, ZNF501, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZXDC,

Genes at Omim

ACAD9, ACOX2, ACVR2B, ADCY5, ADIPOQ, AGTR1, AHSG, ANO10, ARHGAP31, ATP2B2, ATXN7, BCL6, BTD, CACNA1D, CASR, CAV3, CCR2, CD96, CHMP2B, CIDEC, CLDN1, CNBP, CP, CPOX, CRBN, CRELD1, CRTAP, CX3CR1, DNAH1, DNASE1L3, DRD3, DVL3, DZIP1L, EIF2B5, EIF4G1, EOGT, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNAT1, GNB4, GP9, GPX1, HGD, HPS3, HRG, IFT57, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, JAGN1, KALRN, KLHL24, KLHL40, KNG1, KY, LARS2, LIPH, LMOD3, LPP, MASP1, MCCC1, MCM2, MLF1, MST1R, MYL3, MYLK, NBEAL2, NPHP3, OPA1, P2RY12, PCYT1A, PDHB, PLD1, POGLUT1, POMGNT2, PPARG, PRKCD, PROS1, RAF1, RNF168, RPSA, SCN10A, SCN11A, SCN5A, SETD2, SGOL1, SI, SLC25A26, SLC2A2, SLC33A1, SLC6A20, SLC7A14, SLCO2A1, TF, TGFBR2, TKT, TMEM43, TMIE, TNIK, TRAK1, TREX1, TRH, TRMT10C, TRNT1, WNT7A, XPC, ZNF148,
ACAD9 Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
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)
AGTR1 {Hypertension, essential}, 145500 (3)
Renal tubular dysgenesis, 267430 (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)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCL6 Lymphoma, B-cell (2)
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)
CCR2 {HIV infection, susceptibility/resistance to} (3)
CD96 C syndrome, 211750 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CIDEC ?Lipodystrophy, familial partial, type 5, 615238 (3)
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CNBP Myotonic dystrophy 2, 602668 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRBN Mental retardation, autosomal recessive 2, 607417 (3)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CRTAP Osteogenesis imperfecta, type VII, 610682 (3)
CX3CR1 {Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Coronary artery disease, resistance to}, 607339 (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
DNASE1L3 Systemic lupus erythematosus 16, 614420 (3)
DRD3 {Essential tremor, hereditary, 1}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DVL3 Robinow syndrome, autosomal dominant 3, 616894 (3)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EIF2B5 Leukoencephalopathy with vanishing white matter, 603896 (3)
Ovarioleukodystrophy, 603896 (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)
GNAT1 Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)
Night blindness, congenital stationary, type 1G, 616389 (3)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
GP9 Bernard-Soulier syndrome, type C, 231200 (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)
IFT57 ?Orofaciodigital syndrome XVIII, 617927 (3)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
ILDR1 Deafness, autosomal recessive 42, 609646 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
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)
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)
LMOD3 Nemaline myopathy 10, 616165 (3)
LPP Leukemia, acute myeloid, 601626 (3)
Lipoma (3)
MASP1 3MC syndrome 1, 257920 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCM2 ?Deafness, autosomal dominant 70, 616968 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYL3 Cardiomyopathy, hypertrophic, 8, 608751 (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)
OPA1 {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Behr syndrome, 210000 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy plus syndrome, 125250 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (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)
PLD1 Cardiac valvular defect, developmental, 212093 (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)
PPARG Carotid intimal medial thickness 1, 609338 (3)
Lipodystrophy, familial partial, type 3, 604367 (3)
Insulin resistance, severe, digenic, 604367 (3)
Obesity, severe, 601665 (3)
[Obesity, resistance to] (3)
{Diabetes, type 2}, 125853 (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)
RAF1 Cardiomyopathy, dilated, 1NN, 615916 (3)
LEOPARD syndrome 2, 611554 (3)
Noonan syndrome 5, 611553 (3)
RNF168 RIDDLE syndrome, 611943 (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)
SGOL1 Chronic atrial and intestinal dysrhythmia, 616201 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A26 Combined oxidative phosphorylation deficiency 28, 616794 (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)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
TF Atransferrinemia, 209300 (3)
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Loeys-Dietz syndrome 2, 610168 (3)
Esophageal cancer, somatic, 133239 (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)
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)
TRMT10C Combined oxidative phosphorylation deficiency 30, 616974 (3)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
WNT7A Fuhrmann syndrome, 228930 (3)
Ulna and fibula, absence of, with severe limb deficiency, 276820 (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

ACAD9, ACVR2B, ADCY5, AGTR1, ALS2CL, ANO10, ARHGAP31, ATXN7, BTD, CACNA1D, CASR, CAV3, CCDC14, CD96, CHMP2B, CIDEC, CLDN1, CNBP, CP, CPOX, CRBN, CRELD1, CRTAP, DNAH1, DNAJC13, DNASE1L3, DVL3, EIF2B5, EIF4G1, EOGT, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNAT1, GNB4, GP9, HGD, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, KNG1, LARS2, LIPH, MASP1, MCCC1, MYL3, MYLK, NBEAL2, NPHP3, OPA1, P2RY12, PCYT1A, PDHB, POGLUT1, POMGNT2, PPARG, PRICKLE2, PRKCD, PROS1, PTH1R, RAF1, RNF168, RPSA, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC2A2, SLC33A1, SLC6A20, SLC7A14, SLCO2A1, TF, TGFBR2, TMEM43, TMIE, TREX1, TRNT1, WNT7A, XPC,
ACAD9 Acyl-CoA dehydrogenase family, member 9, deficiency of
ACVR2B Heterotaxy, visceral, 4, autosomal
ADCY5 Dyskinesia, familial, with facial myokymia
AGTR1 Renal tubular dysgenesis
ALS2CL Schizophrenia
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATXN7 Spinocerebellar ataxia 7
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
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
CIDEC Lipodystrophy, familial partial, type 5
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CNBP Myotonic dystrophy 2
CP Aceruloplasminemia
Hypoceruloplasminemia
CPOX Coproporphyria
Harderoporphyria
CRBN Mental retardation, autosomal recessive 2
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CRTAP Osteogenesis imperfecta, type VII
DNAH1 Spermatogenic failure
DNAJC13 Parkinson disease 21
DNASE1L3 Systemic lupus erythematosus 16
DVL3 Robinow syndrome, autosomal dominant 3
EIF2B5 Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
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
GNAT1 Night blindness, congenital stationary, autosomal dominant 3
Night blindness, congenital stationary, autosomal recessive, 1G
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
GP9 Bernard-Soulier syndrome
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
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MYL3 Cardiomyopathy, familial hypertrophic, 8
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
NPHP3 Nephronophthisis 3
Meckel syndrome 7
Renal-hepatic-pancreatic dysplasia
OPA1 Glaucoma, normal tension, susceptibility to
P2RY12 Bleeding disorder, platelet-type, 8
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PPARG Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
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
RAF1 Cardiomyopathy, dilated, 1NN
LEOPARD syndrome 2
Noonan syndrome 5
RNF168 RIDDLE syndrome
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
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
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
TF Atransferrinemia
TGFBR2 Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B
TMEM43 Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7
TMIE Deafness, autosomal recessive 6
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
WNT7A Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Fuhrmann syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 2513
Number of Genes: 492

Export to: CSV

A4GNT

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 sm008-1 both 3 rs2246945
dbSNP Clinvar
137843476 5003.77 G T . 1/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.65375 0.65380 0.33946 0.93 0.00 None None None None None None A4GNT|0.020635171|73.87%
View sm008-1 both 3 rs2170309
dbSNP Clinvar
137843106 1836.77 T C . 1/1 51 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%
View sm008-1 both 3 rs2724691
dbSNP Clinvar
137850003 3413.77 A G . 1/1 99 SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.35399 None None None None None None A4GNT|0.020635171|73.87%

AADAC

Omim - GeneCards - NCBI
Options Individual Chr
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 sm008-1 both 3 rs1803155
dbSNP Clinvar
151545601 2570.77 G A . 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.73443 0.73440 0.22189 0.04 0.24 None None None None None None AADAC|0.00221398|90.39%

AADACL2

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 sm008-1 both 3 rs1972977
dbSNP Clinvar
151463421 3672.77 G T . 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.70667 0.70670 0.30183 1.00 0.01 None None None None None None AADACL2|0.001976057|91.06%

ABCC5

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 sm008-1 both 3 rs761217800
dbSNP Clinvar
183699620 1114.77 C T . 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.39 None None None None None None ABCC5|0.264803016|30.31%
View sm008-1 both 3 rs3749442
dbSNP Clinvar
183660585 1910.77 G A . 0/1 122 SYNONYMOUS_CODING LOW None 0.24900 0.24900 0.17080 None None None None None None ABCC5|0.264803016|30.31%
View sm008-1 both 3 rs939336
dbSNP Clinvar
183685534 4179.77 A G . 1/1 122 SYNONYMOUS_CODING LOW None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View sm008-1 both 3 rs1132776
dbSNP Clinvar
183696402 2016.77 A G . 1/1 63 SYNONYMOUS_CODING LOW None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%

ABCF3

Omim - GeneCards - NCBI
Options Individual Chr
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 sm008-1 both 3 rs11539876
dbSNP Clinvar
183904049 2925.77 A G . 0/1 191 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
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 sm008-1 both 3 rs3732895
dbSNP Clinvar
100712249 570.77 T C . 0/1 41 START_LOST HIGH None 0.23942 0.23940 0.14508 0.81 0.00 None None None None None None ABI3BP|0.072954425|56.79%
View sm008-1 both 3 rs73135513
dbSNP Clinvar
100532510 1144.77 T A . 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.01 0.04 None None None None None None ABI3BP|0.072954425|56.79%
View sm008-1 both 3 rs36077176
dbSNP Clinvar
100548484 2258.77 T C . 0/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.11562 0.11560 1.00 0.00 None None None None None None ABI3BP|0.072954425|56.79%
View sm008-1 both 3 rs10936352
dbSNP Clinvar
100473505 1377.77 C T . 0/1 115 SYNONYMOUS_CODING LOW None 0.29094 0.29090 0.31592 None None None None None None ABI3BP|0.072954425|56.79%
View sm008-1 both 3 rs12632235
dbSNP Clinvar
100536284 456.77 C T . 0/1 34 SYNONYMOUS_CODING LOW None 0.10903 0.10900 None None None None None None ABI3BP|0.072954425|56.79%
View sm008-1 both 3 rs2245370
dbSNP Clinvar
100617680 870.77 C T . 0/1 64 SYNONYMOUS_CODING LOW None 0.72804 0.72800 0.43846 None None None None None None ABI3BP|0.072954425|56.79%

AC022498.1

Omim - GeneCards - NCBI
Options Individual Chr
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 sm008-1 both 3 rs13096615
dbSNP Clinvar
187897059 1442.77 G A . 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.55212 0.55210 0.47394 0.00 None None None None None None LPP|0.866185415|4.34%
View sm008-1 both 3 rs13096994
dbSNP Clinvar
187897283 1002.77 G A . 0/1 65 SYNONYMOUS_CODING LOW None 0.21745 0.21750 0.09023 None None None None None None LPP|0.866185415|4.34%

ACAA1

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 sm008-1 both 3 rs156265
dbSNP Clinvar
38170810 1228.77 C G . 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.13678 0.13680 0.11203 0.30 0.00 None None None None None None ACAA1|0.152807913|42.57%

ACAD11

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 sm008-1 both 3 rs821572
dbSNP Clinvar
132360883 2451.77 C T . 1/1 71 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%
View sm008-1 both 3 rs2270801
dbSNP Clinvar
132277866 566.77 G A . 0/1 67 SYNONYMOUS_CODING LOW None 0.08906 0.08906 0.08098 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%
View sm008-1 both 3 rs41272321
dbSNP Clinvar
132338346 429.77 T G . 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.09445 0.09445 0.07818 0.00 0.23 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%

ACAD9

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 sm008-1 both 3 rs1680778
dbSNP Clinvar
128614185 833.77 A C . 0/1 69 SYNONYMOUS_CODING LOW None 0.54333 0.54330 0.45025 None None None None None None ACAD9|0.037542625|66.62%
View sm008-1 both 3 rs876755
dbSNP Clinvar
128627933 1946.77 C T . 0/1 125 SYNONYMOUS_CODING LOW None 0.31030 0.31030 0.23443 None None None None None None ACAD9|0.037542625|66.62%

ACAP2

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 sm008-1 both 3 rs6437374
dbSNP Clinvar
195076877 1585.77 C G . 0/1 135 None None None 0.44449 0.44450 0.03 0.00 None None None None None None ACAP2|0.547774722|13.85%

ACKR2

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 sm008-1 both 3 rs2228468
dbSNP Clinvar
42907112 713.77 A C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.44110 0.34753 0.63 0.00 None None None None None None ACKR2|0.020748215|73.81%,KRBOX1|0.003506869|87.76%,CYP8B1|0.009872221|80.96%

ACOX2

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 sm008-1 both 3 rs1127745
dbSNP Clinvar
58512237 994.77 A G . 0/1 63 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.27741 None None None None None None ACOX2|0.021941785|73.2%

ACPL2

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 sm008-1 both 3 rs3210458
dbSNP Clinvar
141011630 1661.77 C T . 0/1 110 SYNONYMOUS_CODING LOW None 0.10004 0.10000 0.08412 None None None None None None PXYLP1|0.09254292|52.7%

ACTL6A

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 sm008-1 both 3 rs1132429
dbSNP Clinvar
179298999 6574.77 C T . 1/1 200 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
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 sm008-1 both 3 rs1046677
dbSNP Clinvar
53905308 2474.77 T C . 1/1 76 SYNONYMOUS_CODING LOW None 0.69229 0.69230 0.48116 None None None None None None ACTR8|0.331819735|25.35%
View sm008-1 both 3 rs4687757
dbSNP Clinvar
53906513 3680.77 G A . 1/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%

ACVR2B

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 sm008-1 both 3 rs2070489
dbSNP Clinvar
38519424 748.77 A G . 0/1 72 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%
View sm008-1 both 3 rs1046048
dbSNP Clinvar
38524742 1225.77 C T . 0/1 78 SYNONYMOUS_CODING LOW None 0.35324 0.35320 0.43857 None None None None None None ACVR2B|0.559847657|13.37%

ADCY5

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 sm008-1 both 3 rs4678027
dbSNP Clinvar
123167249 791.77 G A . 1/1 23 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
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 sm008-1 both 3 rs2241766
dbSNP Clinvar
186570892 991.77 T G . 0/1 93 SYNONYMOUS_CODING LOW None 0.15136 0.15140 0.09250 None None None None None None ADIPOQ|0.239416973|32.49%

AGTR1

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 sm008-1 both 3 rs5182
dbSNP Clinvar
148459395 4268.77 C T . 1/1 130 SYNONYMOUS_CODING LOW None 0.45807 0.45810 0.38152 None None None None None None AGTR1|0.849419529|4.65%

AHSG

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 sm008-1 both 3 rs4917
dbSNP Clinvar
186337713 1030.77 T C . 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.73542 0.73540 0.31493 1.00 0.00 None None None None None None AHSG|0.045377146|64.1%
View sm008-1 both 3 rs1071592
dbSNP Clinvar
186338425 2034.77 A C . 1/1 54 SYNONYMOUS_CODING LOW None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%

ALCAM

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 sm008-1 both 3 rs579565
dbSNP Clinvar
105260518 1361.77 G A . 0/1 114 SYNONYMOUS_CODING LOW None 0.23682 0.23680 0.24320 None None None None None None ALCAM|0.549351292|13.76%
View sm008-1 both 3 rs599278
dbSNP Clinvar
105260596 2583.77 T C . 1/1 71 SYNONYMOUS_CODING LOW None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%

ALDH1L1

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 sm008-1 both 3 rs2276724
dbSNP Clinvar
125854409 1719.77 T C . 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.15435 0.15440 0.15208 0.02 0.09 None None None None None None ALDH1L1|0.039465558|65.93%
View sm008-1 both 3 rs2305230
dbSNP Clinvar
125856695 580.77 C A . 0/1 51 SYNONYMOUS_CODING LOW None 0.24481 0.24480 0.24058 None None None None None None ALDH1L1|0.039465558|65.93%
View sm008-1 both 3 rs2886059
dbSNP Clinvar
125865766 264.77 C A . 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.23722 0.23720 0.23059 0.00 0.07 None None None None None None ALDH1L1|0.039465558|65.93%

ALS2CL

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 sm008-1 both 3 rs13080080
dbSNP Clinvar
46722692 5924.77 G T . 1/1 170 None None None 0.64876 0.64880 0.36123 None None None None None None ALS2CL|0.023531697|72.41%
View sm008-1 both 3 rs4683310
dbSNP Clinvar
46723551 1299.77 G A . 0/1 78 SYNONYMOUS_CODING LOW None 0.31310 0.31310 0.34115 None None None None None None ALS2CL|0.023531697|72.41%
View sm008-1 both 3 rs7625303
dbSNP Clinvar
46713457 1367.77 C G . 0/1 114 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sm008-1 both 3 rs2241559
dbSNP Clinvar
134084695 1421.77 C T . 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.00008 0.41 0.08 None None None None None None AMOTL2|0.079628393|55.26%
View sm008-1 both 3 rs1353776
dbSNP Clinvar
134077470 1058.77 C G . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.26918 1.00 0.00 None None None None None None AMOTL2|0.079628393|55.26%

ANKRD28

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 sm008-1 both 3 rs2470548
dbSNP Clinvar
15737689 2622.77 G A . 1/1 77 SYNONYMOUS_CODING LOW None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%
View sm008-1 both 3 rs2470549
dbSNP Clinvar
15737698 2800.77 T C . 1/1 83 SYNONYMOUS_CODING LOW None 0.41294 0.41290 0.47133 None None None None None None ANKRD28|0.433008795|19.04%

ANKUB1

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 sm008-1 both 3 rs954714
dbSNP Clinvar
149479301 1656.77 C T . 0/1 125 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 sm008-1 both 3 rs3772165
dbSNP Clinvar
43602803 2520.77 C T . 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.66314 0.66310 0.44310 0.54 0.00 None None None None None None ANO10|0.098739999|51.41%
View sm008-1 both 3 rs6441771
dbSNP Clinvar
43414318 1131.77 A G . 1/1 30 None None None 0.98143 0.98140 0.33 0.00 None None None None None None SNRK|0.096657733|51.77%,ANO10|0.098739999|51.41%

AP2M1

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 sm008-1 both 3 rs843366
dbSNP Clinvar
183900680 801.77 G C . 0/1 51 None None None 0.34185 0.34190 0.27921 0.58 0.00 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%
View sm008-1 both 3 rs843365
dbSNP Clinvar
183900729 734.77 T C . 0/1 47 None None None 0.52875 0.52880 0.50 0.00 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%

APEH

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 sm008-1 both 3 rs3816877
dbSNP Clinvar
49719799 862.77 C T . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00015 0.03 0.61 None None None None None None APEH|0.758566241|6.88%

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 sm008-1 both 3 rs4688001
dbSNP Clinvar
119118104 3572.77 A G . 1/1 112 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ARHGAP31|0.196163887|37.14%
View sm008-1 both 3 rs3732413
dbSNP Clinvar
119133183 3346.77 G A . 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.84565 0.84560 0.16839 1.00 0.00 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 sm008-1 both 3 rs12497267
dbSNP Clinvar
153839960 4837.77 T C . 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.15953 0.71 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View sm008-1 both 3 rs59508481
dbSNP Clinvar
153839959 4693.77 C T . 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.61801 0.61800 0.02696 0.13 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View sm008-1 both 3 rs12493885
dbSNP Clinvar
153839866 4601.77 G C . 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.95927 0.95930 0.10090 1.00 0.00 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 sm008-1 both 3 rs6765444
dbSNP Clinvar
56763619 1271.77 A G . 0/1 98 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18476 None None None None None None ARHGEF3|0.535419787|14.4%
View sm008-1 both 3 rs1565377
dbSNP Clinvar
56763328 3643.77 T C . 1/1 102 SYNONYMOUS_CODING LOW None 0.72844 0.72840 0.44687 None None None None None None ARHGEF3|0.535419787|14.4%
View sm008-1 both 3 rs1009118
dbSNP Clinvar
56763525 1655.77 A G . 0/1 127 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18484 None None None None None None ARHGEF3|0.535419787|14.4%
View sm008-1 both 3 rs3732511
dbSNP Clinvar
56766435 1292.77 C G . 0/1 83 SYNONYMOUS_CODING LOW None 0.25659 0.25660 0.15470 None None None None None None ARHGEF3|0.535419787|14.4%
View sm008-1 both 3 rs3772219
dbSNP Clinvar
56771251 729.77 A C . 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.41474 0.41470 0.37829 0.07 0.38 None None None None None None ARHGEF3|0.535419787|14.4%
View sm008-1 both 3 rs3732508
dbSNP Clinvar
56835761 1662.77 G A . 0/1 111 None None None 0.32129 0.32130 0.39421 None None None None None None ARHGEF3|0.535419787|14.4%

ARL6IP5

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 sm008-1 both 3 rs10489
dbSNP Clinvar
69151152 2173.77 C A . 1/1 69 SYNONYMOUS_CODING LOW None 0.16534 0.16530 0.08042 None None None None None None ARL6IP5|0.184030281|38.48%

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 sm008-1 both 3 rs184147157
dbSNP Clinvar
35779717 990.77 G C . 0/1 77 SYNONYMOUS_CODING LOW None 0.00140 0.00140 None None None None None None ARPP21|0.628941513|10.81%
View sm008-1 both 3 rs969818
dbSNP Clinvar
35725250 1127.77 C T . 0/1 76 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%

ATP11B

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 sm008-1 both 3 rs11925959
dbSNP Clinvar
182631792 2287.77 C A . 1/1 67 None None None 0.35244 0.35240 0.26496 None None None None None None ATP11B|0.419706725|19.59%

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 sm008-1 both 3 rs6788448
dbSNP Clinvar
193209178 1122.77 T C . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.47145 0.47140 0.44180 0.04 0.99 None None None None None None ATP13A4|0.189604914|37.86%
View sm008-1 both 3 rs2130407
dbSNP Clinvar
193210768 163.77 A G . 0/1 19 SYNONYMOUS_CODING LOW None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%
View sm008-1 both 3 rs59451116
dbSNP Clinvar
193180592 1345.77 G A . 0/1 110 SYNONYMOUS_CODING LOW None 0.29493 0.29490 0.22274 None None None None None None ATP13A4|0.189604914|37.86%
View sm008-1 both 3 rs3796181
dbSNP Clinvar
193183817 756.77 A G . 0/1 60 SYNONYMOUS_CODING LOW None 0.55411 0.55410 0.48954 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 sm008-1 both 3 rs6788770
dbSNP Clinvar
193036794 1328.77 G C . 1/1 40 SYNONYMOUS_CODING LOW None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%
View sm008-1 both 3 rs11926955
dbSNP Clinvar
193042776 3658.77 T C . 1/1 116 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%
View sm008-1 both 3 rs73888252
dbSNP Clinvar
193036783 1301.77 G A . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.20587 0.20590 0.15501 0.10 0.02 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 sm008-1 both 3 rs2289274
dbSNP Clinvar
10413715 764.77 G A . 0/1 51 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.25788 None None None None None None ATP2B2|0.393540983|21.16%
View sm008-1 both 3 rs751122
dbSNP Clinvar
10420087 1280.77 T C . 1/1 42 SYNONYMOUS_CODING LOW None 0.49321 0.49320 0.36099 None None None None None None ATP2B2|0.393540983|21.16%
View sm008-1 both 3 rs2289273
dbSNP Clinvar
10413601 1323.77 G A . 0/1 98 SYNONYMOUS_CODING LOW None 0.14078 0.14080 0.10149 None None None None None None ATP2B2|0.393540983|21.16%

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 sm008-1 both 3 rs3774729
dbSNP Clinvar
63982082 1066.77 G A . 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.43770 0.43770 0.39069 1.00 0.00 None None None None None None ATXN7|0.45901663|17.72%
View sm008-1 both 3 rs1053338
dbSNP Clinvar
63967900 977.77 A G . 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.11462 0.11460 0.09994 0.12 0.18 None None None None None None ATXN7|0.45901663|17.72%
View sm008-1 both 3 rs74823804
dbSNP Clinvar
63976489 1186.77 G A . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.01937 0.01937 0.00095 0.00 1.00 None None None None None None ATXN7|0.45901663|17.72%
View sm008-1 both 3 rs3733124
dbSNP Clinvar
63981215 1457.77 A G . 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.00998 0.00998 0.00023 1.00 0.00 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 sm008-1 both 3 rs4422294
dbSNP Clinvar
118948716 1376.77 G A . 0/1 108 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 sm008-1 both 3 rs1056932
dbSNP Clinvar
187447032 3988.77 G A . 1/1 118 SYNONYMOUS_CODING LOW None 0.56530 0.56530 0.49739 None None None None None None BCL6|0.913517921|3.15%

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 sm008-1 both 3 rs775228
dbSNP Clinvar
112997554 3530.77 A G . 1/1 106 SYNONYMOUS_CODING LOW None 0.62041 0.62040 0.45240 None None None None None None BOC|0.066912228|58.17%
View sm008-1 both 3 rs2649878
dbSNP Clinvar
112998265 2109.77 A G . 1/1 64 SYNONYMOUS_CODING LOW None 0.55871 0.55870 0.46171 None None None None None None BOC|0.066912228|58.17%
View sm008-1 both 3 rs3814399
dbSNP Clinvar
112991492 3753.77 C T . 1/1 101 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00461 None None None None None None BOC|0.066912228|58.17%
View sm008-1 both 3 rs577891450
dbSNP Clinvar
112989788 3053.77 C T . 0/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00 0.87 None None None None None None BOC|0.066912228|58.17%

BSN

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 sm008-1 both 3 rs4855885
dbSNP Clinvar
49690199 4212.77 G A . 1/1 116 SYNONYMOUS_CODING LOW None 0.91354 0.91350 0.16100 None None None None None None BSN|0.190182415|37.78%
View sm008-1 both 3 rs2005557
dbSNP Clinvar
49701298 2048.77 G A . 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.64038 0.64040 0.48793 0.81 0.00 None None None None None None BSN|0.190182415|37.78%

BTD

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 sm008-1 both 3 rs2019160
dbSNP Clinvar
15643043 5624.77 A G . 1/1 156 None None None 0.96805 0.96810 None None None None None None HACL1|0.127678735|46.24%,BTD|0.016571109|76.15%

BTLA

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 sm008-1 both 3 rs9288952
dbSNP Clinvar
112185025 1566.77 G A . 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.64457 0.64460 0.26634 0.69 0.00 None None None None None None BTLA|0.003101393|88.51%
View sm008-1 both 3 rs76844316
dbSNP Clinvar
112188609 430.77 T G . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.03714 0.03714 0.01607 0.04 0.01 None None None None None None BTLA|0.003101393|88.51%
View sm008-1 both 3 rs2931761
dbSNP Clinvar
112190137 2665.77 G T . 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.98822 0.98820 0.00938 1.00 0.00 None None None None None None BTLA|0.003101393|88.51%

C3orf17

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 sm008-1 both 3 rs2306857
dbSNP Clinvar
112727184 2472.77 A T . 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.49621 0.49620 0.38659 0.12 0.00 None None None None None None GTPBP8|0.249715548|31.53%,C3orf17|0.030655126|69.13%

C3orf18

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 sm008-1 both 3 rs1034405
dbSNP Clinvar
50597092 4013.77 G A . 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.83267 0.83270 0.18894 0.00 1.00 None None None None None None C3orf18|0.106330269|49.91%

C3orf20

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 sm008-1 both 3 rs6790129
dbSNP Clinvar
14755617 201.77 C G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.37899 0.37900 0.42742 0.13 0.49 None None None None None None C3orf20|0.005924936|84.66%