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Genes:
AADAC, AADACL2, ABCC5, ABI3BP, ABTB1, AC022498.1, ACAD11, ACAP2, ACKR2, ACTL6A, ACTR8, ACVR2B, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L, ALS2CL, AMOTL2, ANKRD28, ANO10, AP2M1, ARHGAP31, ARHGEF26, ARHGEF3, ARL13B, ARPP21, ATG3, ATP13A4, ATP13A5, ATP2B2, ATR, B3GALNT1, B4GALT4, BAP1, BCHE, BCL6, BFSP2, BOC, BRPF1, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf27, C3orf30, C3orf38, C3orf52, C3orf72, C3orf80, CACNA1D, CACNA2D3, CAMK2N2, CAMKV, CAND2, CASR, CBLB, CCDC12, CCDC13, CCDC14, CCDC36, CCDC37, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCNL1, CCR2, CCR3, CCR4, CCRL2, CD200, CD200R1, CD200R1L, CD80, CD86, CD96, CDCP1, CDHR4, CEP19, CEP63, CEP70, CEP97, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CIDEC, CLCN2, CLDN1, CLDN18, CLEC3B, CLSTN2, CMC1, CMSS1, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COLQ, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPOX, CRELD1, CRTAP, CRYBG3, CSPG5, CSRNP1, CX3CR1, CYP8B1, DAG1, DALRD3, DBR1, DCBLD2, DCP1A, DCUN1D1, DGKG, DHFRL1, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNASE1L3, DPH3, DPPA4, DRD3, DTX3L, DZIP1L, DZIP3, EBLN2, ECE2, EDEM1, EEFSEC, EFCAB12, EFHB, EHHADH, EIF2A, EIF2B5, EIF4G1, ENTPD3, EOGT, EOMES, EPHA6, EPHB1, EPHB3, EXOSC7, FAIM, FAM107A, FAM162A, FAM194A, FAM198A, FAM208A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FGD5, FILIP1L, FLNB, FNDC3B, FRG2C, FRMD4B, FYCO1, FYTTD1, GABRR3, GATA2, GBE1, GCSAM, GLB1, GLYCTK, GMPPB, GNB4, GNL3, GOLGA4, GP5, GPD1L, GPR156, GPR160, GPR171, GPR62, GPX1, GRAMD1C, GRM7, GTF2E1, GTPBP8, GUCA1C, H1FOO, HCLS1, HEG1, HEMK1, HGD, HHATL, HHLA2, HPS3, HRG, HTR3C, HTR3D, HTR3E, HYAL2, IFRD2, IFT122, IGSF10, IGSF11, IL17RB, IL17RC, IL17RD, ILDR1, IMPG2, IP6K2, IQCB1, IQCF6, IQSEC1, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNMB3, KIAA0226, KIAA1407, KIAA2018, KIF15, KLHL40, KLHL6, KNG1, KPNA1, KY, LAMP3, LARS2, LEKR1, LEPREL1, LIMD1, LINC01100, LIPH, LNP1, LPP, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC58, LRRIQ4, LRRN1, LSG1, LTF, MAATS1, MAGEF1, MAP3K13, MAP4, MAP6D1, MASP1, MBD4, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MFI2, MFN1, MFSD1, MINA, MKRN2, MLH1, MOBP, MON1A, MORC1, MRPL3, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYNN, MYRIP, NAALADL2, NBEAL2, NCEH1, NCKIPSD, NEK11, NEK4, NISCH, NIT2, NKIRAS1, NKTR, NMD3, NME6, NMNAT3, NPHP3, NR1D2, NR1I2, NRROS, NT5DC2, NUP210, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K3, OR5K4, OSBPL10, OSBPL11, OTOL1, OXNAD1, OXTR, P2RY12, P2RY13, PAQR9, PARL, PARP14, PARP15, PARP3, PBRM1, PCYT1A, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PFKFB4, PHF7, PIGZ, PLA1A, PLCD1, PLCH1, PLCL2, PLD1, PLOD2, PLS1, PLSCR2, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PP2D1, PPM1M, PPP2R3A, PRICKLE2, PRKCD, PROS1, PRR23C, PRRT3, PRSS42, PRSS45, PRSS46, PRSS50, PTPLB, PTPN23, PTPRG, PTX3, RAB5A, RAD18, RARRES1, RASSF1, RBM5, RBM6, RBP1, RFC4, RFT1, RNF123, RNF13, RNF168, ROBO1, ROBO2, RP11-3B7.1, RP11-433C9.2, RP11-553A10.1, RPL14, RPN1, RRP9, RTP2, RTP4, RYBP, RYK, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEC22C, SEMA3F, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SETD5, SETMAR, SGOL1, SH3BP5, SI, SKIL, SLC12A8, SLC22A14, SLC25A26, SLC25A38, SLC2A2, SLC35A5, SLC35G2, SLC41A3, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SMCO1, SPATA12, SPATA16, SPCS1, SRPRB, SSR3, SSUH2, ST3GAL6, STAB1, STAC, SUCLG2, SUMF1, SUSD5, TAMM41, TATDN2, TDGF1, TF, TFG, TFRC, TGFBR2, TGM4, THRB, THUMPD3, TIMMDC1, TKT, TLR9, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM110-MUSTN1, TMEM158, TMEM43, TMEM44, TMEM45A, TMF1, TMIE, TMPRSS7, TNFSF10, TNIK, TNK2, TOPAZ1, TOPBP1, TPRG1, TPRXL, TRAK1, TREX1, TRH, TRIM42, TRIM71, TRNT1, TRPC1, TSC22D2, TTC14, TTC21A, TTLL3, TWF2, TXNRD3, UBE2E1, UBP1, UBXN7, ULK4, UMPS, UPK1B, UROC1, UTS2B, VEPH1, VGLL4, VIPR1, VPS8, WDR52, WDR53, WNT7A, XCR1, XIRP1, XPC, XXYLT1, XYLB, YEATS2, ZBBX, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZIC1, ZKSCAN7, ZNF148, ZNF197, ZNF385D, ZNF501, ZNF502, ZNF589, ZNF619, ZNF621, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC,

Genes at Omim

ACVR2B, ADCY5, AGTR1, AHSG, ANO10, ARHGAP31, ARL13B, ATP2B2, ATR, BAP1, BCHE, BCL6, BFSP2, BRPF1, BTD, CACNA1D, CASR, CCDC39, CCDC50, CCR2, CD96, CEP19, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CRTAP, CX3CR1, DAG1, DNAH1, DNAJB11, DNASE1L3, DRD3, DZIP1L, EHHADH, EIF2B5, EIF4G1, EOGT, FANCD2, FLNB, FYCO1, GATA2, GBE1, GLB1, GLYCTK, GMPPB, GNB4, GPD1L, GPX1, HGD, HPS3, HRG, IFT122, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, JAGN1, KALRN, KLHL40, KNG1, KY, LARS2, LIPH, LPP, MASP1, MCCC1, MCM2, MECOM, MLH1, MRPL3, MST1R, MYLK, NBEAL2, NPHP3, OPA1, P2RY12, PCYT1A, PDHB, PLCD1, PLD1, PLOD2, POGLUT1, POMGNT2, PRKCD, PROS1, RFT1, RNF168, ROBO2, SCN10A, SCN11A, SCN5A, SETD5, SGOL1, SI, SLC25A26, SLC25A38, SLC2A2, SLC6A1, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SPATA16, SUMF1, TDGF1, TF, TFG, TFRC, TGFBR2, THRB, TIMMDC1, TKT, TMEM43, TMIE, TNIK, TRAK1, TREX1, TRH, TRNT1, UMPS, UROC1, WNT7A, XPC, ZIC1, ZNF148,
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (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)
ARL13B Joubert syndrome 8, 612291 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
BAP1 Tumor predisposition syndrome, 614327 (3)
BCHE Butyrylcholinesterase deficiency, 617936 (3)
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3)
BCL6 Lymphoma, B-cell (2)
BFSP2 Cataract 12, multiple types, 611597 (3)
BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (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)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC50 ?Deafness, autosomal dominant 44, 607453 (3)
CCR2 {HIV infection, susceptibility/resistance to} (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)
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)
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)
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)
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)
EHHADH ?Fanconi renotubular syndrome 3, 615605 (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)
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)
GLYCTK D-glyceric aciduria, 220120 (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)
GPD1L Brugada syndrome 2, 611777 (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)
IFT122 Cranioectodermal dysplasia 1, 218330 (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)
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)
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)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MRPL3 Combined oxidative phosphorylation deficiency 9, 614582 (3)
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)
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)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PLD1 Cardiac valvular defect, developmental, 212093 (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)
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)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SGOL1 Chronic atrial and intestinal dysrhythmia, 616201 (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)
SLC6A1 Myoclonic-atonic epilepsy, 616421 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC7A14 Retinitis pigmentosa 68, 615725 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SPATA16 ?Spermatogenic failure 6, 102530 (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)
TFRC Immunodeficiency 46, 616740 (3)
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Loeys-Dietz syndrome 2, 610168 (3)
Esophageal cancer, somatic, 133239 (3)
THRB Thyroid hormone resistance, 188570 (3)
Thyroid hormone resistance, autosomal recessive, 274300 (3)
Thyroid hormone resistance, selective pituitary, 145650 (3)
TIMMDC1 Mitochondrial complex I deficiency, nuclear type 31, 618251 (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)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
UMPS Orotic aciduria, 258900 (3)
UROC1 ?Urocanase deficiency, 276880 (3)
WNT7A Fuhrmann syndrome, 228930 (3)
Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)
ZIC1 Craniosynostosis 6, 616602 (3)
ZNF148 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)

Genes at Clinical Genomics Database

ACVR2B, ADCY5, AGTR1, ALS2CL, ANO10, ARHGAP31, ARL13B, ATR, B3GALNT1, BAP1, BCHE, BFSP2, BTD, CACNA1D, CASR, CCDC14, CCDC39, CCDC50, CD96, CEP19, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CRTAP, DAG1, DNAH1, DNAJC13, DNASE1L3, EHHADH, EIF2B5, EIF4G1, EOGT, FANCD2, FLNB, FYCO1, GATA2, GBE1, GLB1, GLYCTK, GMPPB, GNB4, GPD1L, HGD, HPS3, HRG, IFT122, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, KNG1, LARS2, LIPH, MASP1, MCCC1, MECOM, MLH1, MRPL3, MYLK, NBEAL2, NPHP3, OPA1, P2RY12, PBRM1, PCYT1A, PDHB, PLCD1, PLOD2, POGLUT1, POMGNT2, PRICKLE2, PRKCD, PROS1, RFT1, RNF168, ROBO2, SCN11A, SCN5A, SETD5, SI, SLC25A26, SLC25A38, SLC2A2, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SPATA16, SUMF1, TDGF1, TF, TFG, TFRC, TGFBR2, THRB, TMEM43, TMIE, TREX1, TRNT1, UMPS, UROC1, WNT7A, XPC, ZIC1,
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
ARL13B Joubert syndrome 8
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
B3GALNT1 Blood group, P system
BAP1 Tumor predisposition syndrome
BCHE Butyrlcholinesterase deficiency
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
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
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
CRTAP Osteogenesis imperfecta, type VII
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
EHHADH Fanconi renotubular syndrome 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
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GLYCTK D-glyceric aciduria
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
GPD1L Brugada syndrome 2
HGD Alkaptonuria
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT122 Cranioectodermal dysplasia 1
Sensenbrenner syndrome
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
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
MRPL3 Combined oxidative phosphorylation deficiency 9
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
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
RFT1 Congenital disorder of glycosylation, type In
RNF168 RIDDLE syndrome
ROBO2 Congenital anomalies of the kidney and urinary tract
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
SETD5 Mental retardation, autosomal dominant 23
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
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC7A14 Retinitis pigmentosa 68
SLC9A9 Autism susceptibility 16
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
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
TFRC Immunodeficiency 46
TGFBR2 Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B
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
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
UMPS Orotic aciduria
UROC1 Urocanase deficiency
WNT7A Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Fuhrmann syndrome
XPC Xeroderma pigmentosum, group C
ZIC1 Craniosynostosis 6

Genes at HGMD

Summary

Number of Variants: 4900
Number of Genes: 547

Export to: CSV

AADAC

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1803155
dbSNP Clinvar
151545601 1678.77 G A PASS 1/1 47 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1972977
dbSNP Clinvar
151463421 1128.77 G T PASS 0/1 98 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
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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1132776
dbSNP Clinvar
183696402 676.77 A G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs939336
dbSNP Clinvar
183685534 817.77 A G PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs7636910
dbSNP Clinvar
183699516 646.77 T C PASS 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%

ABI3BP

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs36077176
dbSNP Clinvar
100548484 945.77 T C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.11562 0.11560 1.00 0.00 -0.22 None None None None None None ABI3BP|0.072954425|56.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs12632235
dbSNP Clinvar
100536284 242.77 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.10903 0.10900 None None None None None None ABI3BP|0.072954425|56.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs73135513
dbSNP Clinvar
100532510 1106.77 T A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.01 0.04 1.67 None None None None None None ABI3BP|0.072954425|56.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2245370
dbSNP Clinvar
100617680 3701.77 C T PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.72804 0.72800 0.43846 None None None None None None ABI3BP|0.072954425|56.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs10936352
dbSNP Clinvar
100473505 2580.77 C T PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.29094 0.29090 0.31592 None None None None None None ABI3BP|0.072954425|56.79%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3732895
dbSNP Clinvar
100712249 1978.77 T C PASS 0/1 154 START_LOST HIGH None 0.23942 0.23940 0.14508 0.81 0.00 1.95 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs35703629
dbSNP Clinvar
127394820 1175.77 C T PASS 0/1 72 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs13096994
dbSNP Clinvar
187897283 991.77 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.21745 0.21750 0.09023 None None None None None None LPP|0.866185415|4.34%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs13096615
dbSNP Clinvar
187897059 1645.77 G A PASS 0/1 131 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs821572
dbSNP Clinvar
132360883 2259.77 C T PASS 1/1 61 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6437374
dbSNP Clinvar
195076877 2881.77 C G PASS 1/1 79 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2228468
dbSNP Clinvar
42907112 2900.77 A C PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.44110 0.34753 0.63 0.00 -1.66 None None None None None None ACKR2|0.020748215|73.81%,KRBOX1|0.003506869|87.76%,CYP8B1|0.009872221|80.96%

ACTL6A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1132429
dbSNP Clinvar
179298999 2772.77 C T PASS 1/1 73 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4687757
dbSNP Clinvar
53906513 1532.77 G A PASS 1/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1046677
dbSNP Clinvar
53905308 4620.77 T C PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.69229 0.69230 0.48116 None None None None None None ACTR8|0.331819735|25.35%

ACVR2B

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1046048
dbSNP Clinvar
38524742 3140.77 C T PASS 0/1 193 SYNONYMOUS_CODING LOW None 0.35324 0.35320 0.43857 None None None None None None ACVR2B|0.559847657|13.37%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2070489
dbSNP Clinvar
38519424 2558.77 A G PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%

ADCY5

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4678027
dbSNP Clinvar
123167249 1255.77 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

ADPRH

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs25676
dbSNP Clinvar
119305379 4582.77 T A PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.41234 0.41230 0.32962 None None None None None None ADPRH|0.089216076|53.4%

AGTR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs5182
dbSNP Clinvar
148459395 371.77 C T PASS 0/1 43 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4918
dbSNP Clinvar
186338382 578.77 G C PASS 1/1 17 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4917
dbSNP Clinvar
186337713 2888.77 T C PASS 1/1 82 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%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4831
dbSNP Clinvar
186330969 1892.77 C G PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.21745 0.21750 0.20637 None None None None None None AHSG|0.045377146|64.1%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1071592
dbSNP Clinvar
186338425 1970.77 A C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%

ALAS1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs144166227
dbSNP Clinvar
52242103 862.77 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.02276 0.02276 0.00323 None None None None None None ALAS1|0.153297782|42.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs35338461
dbSNP Clinvar
52233295 1781.77 G A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.00285 0.06 0.47 6.18 None None None None None None ALAS1|0.153297782|42.48%

ALCAM

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs9855810
dbSNP Clinvar
105266331 1088.77 A G PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.05152 0.05152 0.08728 None None None None None None ALCAM|0.549351292|13.76%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1044243
dbSNP Clinvar
105260520 847.77 C T PASS 0/1 59 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs599278
dbSNP Clinvar
105260596 1807.77 T C PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs34926152
dbSNP Clinvar
105264176 826.77 G T PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.02097 0.02097 0.03645 0.49 0.01 2.10 None None None None None None ALCAM|0.549351292|13.76%

ALDH1L1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1127717
dbSNP Clinvar
125826059 2190.77 T C PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.19808 0.19810 0.21490 0.13 0.00 2.62 None None None None None None ALDH1L1|0.039465558|65.93%

ALG1L

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3187686
dbSNP Clinvar
125648209 132.77 C T PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.23163 0.23160 0.23949 0.00 0.00 4.38 None None None None None None ALG1L|0.003997673|87.03%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3811679
dbSNP Clinvar
125648283 106.77 A G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.22438 0.51 0.00 0.23 None None None None None None ALG1L|0.003997673|87.03%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs7615952
dbSNP Clinvar
125649403 126.77 C A PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.23403 0.23400 0.24440 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs7625303
dbSNP Clinvar
46713457 842.77 C G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.25040 0.25040 0.19768 None None None None None None ALS2CL|0.023531697|72.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs13080080
dbSNP Clinvar
46722692 1975.77 G T PASS 0/1 107 None None None 0.64876 0.64880 0.36123 None None None None None None ALS2CL|0.023531697|72.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs34935085
dbSNP Clinvar
46727909 1551.77 C A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.04573 0.04573 0.04383 None None None None None None ALS2CL|0.023531697|72.41%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs7642448
dbSNP Clinvar
46729757 3319.77 C G PASS 1/1 85 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%

AMOTL2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1353776
dbSNP Clinvar
134077470 2888.77 C G PASS 1/1 80 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
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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2470549
dbSNP Clinvar
15737698 601.77 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.41294 0.41290 0.47133 None None None None None None ANKRD28|0.433008795|19.04%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2470548
dbSNP Clinvar
15737689 595.77 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6441771
dbSNP Clinvar
43414318 2847.77 A G PASS 1/1 78 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3772165
dbSNP Clinvar
43602803 895.77 C T PASS 1/1 25 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%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs8478
dbSNP Clinvar
183899832 2275.77 C T PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.14357 0.14360 0.18326 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2231224
dbSNP Clinvar
183901281 1006.77 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.07348 0.07348 0.10769 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs843365
dbSNP Clinvar
183900729 4705.77 T C PASS 1/1 134 None None None 0.52875 0.52880 0.50 0.00 0.06 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs843366
dbSNP Clinvar
183900680 1700.77 G C PASS 0/1 144 None None None 0.34185 0.34190 0.27921 0.58 0.00 -0.20 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%

ARHGAP31

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3732413
dbSNP Clinvar
119133183 4628.77 G A PASS 1/1 125 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%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4688001
dbSNP Clinvar
119118104 3311.77 A G PASS 1/1 88 SYNONYMOUS_CODING LOW None 1.00000 1.00000 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 . 153839959 3269.44 CT TC PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs12493885
dbSNP Clinvar
153839866 2050.77 G C PASS 1/1 57 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs139430962
dbSNP Clinvar
153839806 364.77 T A PASS 0/1 34 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%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1565377
dbSNP Clinvar
56763328 4280.77 T C PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.72844 0.72840 0.44687 None None None None None None ARHGEF3|0.535419787|14.4%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6765444
dbSNP Clinvar
56763619 973.77 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18476 None None None None None None ARHGEF3|0.535419787|14.4%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3732511
dbSNP Clinvar
56766435 1296.77 C G PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.25659 0.25660 0.15470 None None None None None None ARHGEF3|0.535419787|14.4%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1009118
dbSNP Clinvar
56763525 1273.77 A G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18484 None None None None None None ARHGEF3|0.535419787|14.4%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1565376
dbSNP Clinvar
56763316 3684.77 G A PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.73023 0.73020 0.44410 None None None None None None ARHGEF3|0.535419787|14.4%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3772219
dbSNP Clinvar
56771251 1026.77 A C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.41474 0.41470 0.37829 0.07 0.38 1.59 None None None None None None ARHGEF3|0.535419787|14.4%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3732508
dbSNP Clinvar
56835761 2026.77 G A PASS 0/1 136 None None None 0.32129 0.32130 0.39421 None None None None None None ARHGEF3|0.535419787|14.4%

ARL13B

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs33944211
dbSNP Clinvar
93768268 282.77 C G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.07768 0.07768 0.08696 0.44 0.02 1.98 None None None None None None ARL13B|0.209575721|35.63%,DHFRL1|0.005806984|84.81%

ARPP21

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs969818
dbSNP Clinvar
35725250 2389.77 C T PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2012153
dbSNP Clinvar
35779750 545.77 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.35883 0.35880 None None None None None None ARPP21|0.628941513|10.81%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2278757
dbSNP Clinvar
35778773 674.77 A G PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.40815 0.40810 0.49338 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2969896
dbSNP Clinvar
112256630 92.77 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.21066 0.21070 0.16254 None None None None None None ATG3|0.504506892|15.59%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 . 112253058 67.73 CA... CA... PASS 0/1 12 None None None 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs3796181
dbSNP Clinvar
193183817 1121.77 A G PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.55411 0.55410 0.48954 None None None None None None ATP13A4|0.189604914|37.86%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6788448
dbSNP Clinvar
193209178 221.77 T C PASS 0/1 25 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2130407
dbSNP Clinvar
193210768 640.77 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs59451116
dbSNP Clinvar
193180592 1743.77 G A PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.29493 0.29490 0.22274 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6797429
dbSNP Clinvar
193080414 492.77 C G PASS 0/1 31 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%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs12637558
dbSNP Clinvar
193081122 819.77 G T PASS 0/1 52 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs6788770
dbSNP Clinvar
193036794 1421.77 G C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs61753889
dbSNP Clinvar
193039597 1791.77 G A PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.06709 0.06709 0.06789 None None None None None None ATP13A5|0.051025682|62.36%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs11926955
dbSNP Clinvar
193042776 1357.77 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs35678
dbSNP Clinvar
10379923 762.77 C T PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs751122
dbSNP Clinvar
10420087 1516.77 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.49321 0.49320 0.36099 None None None None None None ATP2B2|0.393540983|21.16%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2289274
dbSNP Clinvar
10413715 6403.77 G A PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.25788 None None None None None None ATP2B2|0.393540983|21.16%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2289273
dbSNP Clinvar
10413601 9901.77 G A PASS 1/1 265 SYNONYMOUS_CODING LOW None 0.14078 0.14080 0.10149 None None None None None None ATP2B2|0.393540983|21.16%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs13084776
dbSNP Clinvar
10443827 1665.77 G C PASS 0/1 160 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 . 142274750 12.51 C T PASS 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None ATR|0.696057424|8.61%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2227929
dbSNP Clinvar
142277536 5340.77 A G PASS 0/1 411 SYNONYMOUS_CODING LOW None 0.31070 0.31070 0.34576 None None None None None None ATR|0.696057424|8.61%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2227931
dbSNP Clinvar
142222284 181.77 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.31250 0.31250 0.34957 None None None None None None ATR|0.696057424|8.61%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2227932
dbSNP Clinvar
142217537 393.77 A G PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.06689 0.06689 0.07681 None None None None None None ATR|0.696057424|8.61%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2227930
dbSNP Clinvar
142277575 3502.77 A T PASS 0/1 286 SYNONYMOUS_CODING LOW None 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2227928
dbSNP Clinvar
142281612 333.77 A G PASS 0/1 34 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1802904
dbSNP Clinvar
142168331 1765.77 C T PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%

B3GALNT1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2231257
dbSNP Clinvar
160804167 779.77 C T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.05192 0.05192 0.02607 0.12 0.91 1.71 None None None None None None B3GALNT1|0.115257385|48.26%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs377470132
dbSNP Clinvar
160804561 635.77 A G PASS 0/1 64 None None None 0.01238 0.01238 0.00039 None None None None None None B3GALNT1|0.115257385|48.26%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs4422294
dbSNP Clinvar
118948716 298.77 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22159 None None None None None None B4GALT4|0.059766507|59.94%

BAP1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs146661777
dbSNP Clinvar
52436917 616.77 C G PASS 0/1 39 None None None 0.00839 0.00839 0.00292 0.08 0.00 -1.11 None None None None None None BAP1|0.443867403|18.49%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs28997577
dbSNP Clinvar
52439240 1497.77 T C PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.00839 0.00839 0.00300 None None None None None None BAP1|0.443867403|18.49%

BCHE

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs1803274
dbSNP Clinvar
165491280 305.77 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.15855 0.15850 0.19766 0.13 0.01 3.41 None None None None None None BCHE|0.536654702|14.36%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2229362
dbSNP Clinvar
187446211 4783.77 C T PASS 1/1 122 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%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs2276737
dbSNP Clinvar
133167363 715.77 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.43650 0.43650 0.46402 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 62388010_s7 mvar 62388010_S7.FREEBAYES 3 rs577891450
dbSNP Clinvar
112989788 2017.77 C T PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00 0.87 7.84 0.06 0.66757 D None None None None BOC|0.066912228|58.17%