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Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABHD14B, ABHD5, ABI3BP, ABTB1, AC018816.3, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACPL2, ACPP, ACTL6A, ACTR8, ACVR2B, ADAMTS9, ADCY5, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALG1L, ALS2CL, AMT, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, ARHGAP31, ARHGEF26, ARHGEF3, ARPP21, ASTE1, ATG3, ATG7, ATP11B, ATP13A4, ATP13A5, ATP2B2, ATR, ATXN7, B4GALT4, BBX, BCHE, BCL6, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf22, C3orf27, C3orf30, C3orf33, C3orf38, C3orf49, C3orf52, C3orf62, C3orf84, CACNA1D, CACNA2D3, CADPS, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC14, CCDC174, CCDC36, CCDC39, CCDC50, CCDC51, CCDC66, CCDC71, CCRL2, CD200, CD200R1, CD200R1L, CD80, CD86, CD96, CDCP1, CDHR4, CELSR3, CEP19, CEP63, CEP70, CEP97, CHDH, CHL1, CHMP2B, CHRD, CHST13, CISH, CLASP2, CLCN2, CLDN1, CLDN18, CLEC3B, CLSTN2, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COX17, CP, CPA3, CPN2, CPOX, CRELD1, CRTAP, CRYBG3, CSPG5, CSRNP1, CSTA, CX3CR1, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCBLD2, DCP1A, DCUN1D1, DGKG, DHX36, DLEC1, DNAH1, DNAH12, DNAJB8, DNASE1L3, DPH3, DPPA4, DRD3, DYNC1LI1, DZIP1L, DZIP3, EAF1, EBLN2, ECE2, EDEM1, EEFSEC, EFCC1, EFHB, EIF2A, EIF2B5, EIF4G1, EMC3, EPHA6, EPHB1, ESYT3, EXOG, EXOSC7, FAIM, FAM162A, FAM194A, FAM198A, FANCD2, FBLN2, FBXO40, FBXW12, FGD5, FLNB, FNDC3B, FRMD4B, FYCO1, FYTTD1, GABRR3, GALNT15, GATA2, GBE1, GFM1, GHSR, GK5, GLB1, GLYCTK, GMNC, GMPPB, GNAI2, GNB4, GNL3, GOLGA4, GOLGB1, GP5, GPR128, GPR156, GPR62, GPR87, GPX1, GRAMD1C, GRM2, GRM7, GUCA1C, GYG1, HCLS1, HEG1, HEMK1, HGD, HHATL, HHLA2, HLTF, HPS3, HRG, HTR1F, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFRD2, IFT80, IGSF10, IGSF11, IL17RB, IL17RC, IL17RD, IL17RE, ILDR1, IMPG2, IP6K2, IQCB1, IQCG, IQSEC1, IRAK2, ITGA9, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNMB2, KIAA1407, KIAA2018, KIF15, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KY, LAMB2, LAMP3, LARS2, LEPREL1, LIMD1, LINC01100, LMLN, LNP1, LPP, LRCH3, LRIG1, LRRC2, LRRC58, LRRN1, LSG1, LTF, LXN, MAATS1, MAGEF1, MAGI1, MAP4, MASP1, MCCC1, MCF2L2, MCM2, MED12L, MFI2, MFN1, MFSD1, MINA, MKRN2, MLF1, MLH1, MORC1, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYRIP, NAALADL2, NBEAL2, NCEH1, NCK1, NCKIPSD, NEK10, NEK11, NEK4, NICN1, NISCH, NME9, NMNAT3, NR1D2, NR1I2, NRROS, NT5DC2, NUP210, NXPE3, OPA1, OR5AC2, OR5H15, OR5H2, OR5H6, OR5K3, OR5K4, OXNAD1, OXSM, OXTR, P2RY12, P2RY13, P2RY14, PAK2, PARP14, PARP3, PBRM1, PCCB, PCYT1A, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PHF7, PHLDB2, PIGZ, PIK3R4, PLA1A, PLCH1, PLCL2, PLD1, PLOD2, PLS1, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PP13439, PPARG, PPP2R3A, PRICKLE2, PRKCD, PRKCI, PROS1, PRR23A, PRR23C, PRRT3, PRSS45, PRSS50, PSMD2, PTH1R, PTPLB, PTPN23, PTPRG, PTX3, PXK, PYDC2, QARS, RAB5A, RAB7A, RAD18, RARRES1, RASA2, RBM5, RBM6, RBP1, RETNLB, RFC4, RFT1, RFTN1, RNF123, RNF13, RNF168, ROBO1, RP11-3B7.1, RP11-553A10.1, RP11-723O4.6, RPL14, RPN1, RTP1, RTP2, RTP4, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEC62, SEMA3F, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERPINI2, SETD5, SETMAR, SGOL1, SH3BP5, SI, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A38, SLC26A6, SLC2A2, SLC35G2, SLC41A3, SLC4A7, SLC6A11, SLC6A20, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLMAP, SMARCC1, SMCO1, SNX4, SPATA12, SPCS1, SPSB4, SRGAP3, SSUH2, STAB1, STAC, STAG1, STXBP5L, SUCLG2, SUMF1, SUSD5, TBC1D5, TDGF1, TF, TFRC, TGM4, THUMPD3, TKT, TLR9, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM108, TMEM110-MUSTN1, TMEM158, TMEM40, TMEM43, TMEM44, TMF1, TMIE, TMPRSS7, TNFSF10, TNIK, TNK2, TOPAZ1, TOPBP1, TPRG1, TRAK1, TRANK1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRNT1, TTC21A, TTLL3, TWF2, TXNRD3, UBE2E1, ULK4, UPK1B, UROC1, USP13, USP19, USP4, UTS2B, VEPH1, VGLL4, VPRBP, VPS8, WDR49, WDR52, WDR53, WDR5B, WDR82, XIRP1, XPC, XXYLT1, XYLB, YEATS2, ZBBX, ZBTB38, ZCWPW2, ZDHHC19, ZDHHC23, ZIC4, ZNF148, ZNF385D, ZNF501, ZNF502, ZNF654, ZNF662, ZNF80, ZNF852, ZNF860, ZXDC,

Genes at Omim

ABHD5, ACAD9, ACVR2B, ADCY5, ADIPOQ, AGTR1, AHSG, AMT, ANO10, ARHGAP31, ATP2B2, ATR, ATXN7, BCHE, BCL6, BTD, CACNA1D, CASR, CAV3, CCDC174, CCDC39, CCDC50, CD96, CEP19, CEP63, CHMP2B, CISH, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRTAP, CSTA, CX3CR1, DAG1, DAZL, DNAH1, DNASE1L3, DRD3, DZIP1L, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GLYCTK, GMPPB, GNAI2, GNB4, GPX1, GYG1, HGD, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, JAGN1, KALRN, KLHL24, KLHL40, KNG1, KY, LAMB2, LARS2, LPP, MASP1, MCCC1, MCM2, MLF1, MLH1, MST1R, MYLK, NBEAL2, OPA1, P2RY12, PCCB, PCYT1A, PDHB, PLD1, PLOD2, POGLUT1, POMGNT2, PPARG, PRKCD, PROS1, QARS, RFT1, RNF168, SCN10A, SCN11A, SCN5A, SETD5, SGOL1, SI, SLC25A38, SLC2A2, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, STAG1, SUMF1, TDGF1, TF, TFRC, TKT, TMEM43, TMIE, TNIK, TRAK1, TREX1, TRH, TRNT1, UROC1, XPC, ZNF148,
ABHD5 Chanarin-Dorfman syndrome, 275630 (3)
ACAD9 Mitochondrial complex I deficiency, nuclear type 20, 611126 (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)
AMT Glycine encephalopathy, 605899 (3)
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCHE Butyrylcholinesterase deficiency, 617936 (3)
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (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)
CCDC174 Hypotonia, infantile, with psychomotor retardation, 616816 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC50 ?Deafness, autosomal dominant 44, 607453 (3)
CD96 C syndrome, 211750 (3)
CEP19 Morbid obesity and spermatogenic failure, 615703 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CISH {Malaria, susceptibility to}, 611162 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
{Bacteremia, susceptibility to}, 614383 (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)
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)
CSTA Peeling skin syndrome 4, 607936 (3)
CX3CR1 {Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Coronary artery disease, resistance to}, 607339 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DAZL {Spermatogenic failure, susceptibility to} (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
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)
EIF2B5 Leukoencephalopathy with vanishing white matter, 603896 (3)
Ovarioleukodystrophy, 603896 (3)
EIF4G1 {Parkinson disease 18}, 614251 (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)
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)
GNAI2 Pituitary ACTH-secreting adenoma (3)
Ventricular tachycardia, idiopathic, 192605 (3)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GYG1 ?Glycogen storage disease XV, 613507 (3)
Polyglucosan body myopathy 2, 616199 (3)
HGD Alkaptonuria, 203500 (3)
HPS3 Hermansky-Pudlak syndrome 3, 614072 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
ILDR1 Deafness, autosomal recessive 42, 609646 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
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)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (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)
PCCB Propionicacidemia, 606054 (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)
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)
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)
QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
RFT1 Congenital disorder of glycosylation, type In, 612015 (3)
RNF168 RIDDLE syndrome, 611943 (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)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (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)
STAG1 Mental retardation, autosomal dominant 47, 617635 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (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)
UROC1 ?Urocanase deficiency, 276880 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)
ZNF148 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)

Genes at Clinical Genomics Database

ABHD5, ACAD9, ACVR2B, ADCY5, AGTR1, ALS2CL, AMT, ANO10, ARHGAP31, ATR, ATXN7, BCHE, BTD, CACNA1D, CASR, CAV3, CCDC14, CCDC39, CCDC50, CD96, CEP19, CEP63, CHMP2B, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRTAP, CSTA, DAG1, DNAH1, DNASE1L3, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GLYCTK, GMPPB, GNB4, GYG1, HGD, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, KNG1, LAMB2, LARS2, MASP1, MCCC1, MLH1, MYLK, NBEAL2, OPA1, P2RY12, PBRM1, PCCB, PCYT1A, PDHB, PLOD2, POGLUT1, POMGNT2, PPARG, PRICKLE2, PRKCD, PROS1, PTH1R, QARS, RAB7A, RFT1, RNF168, SCN11A, SCN5A, SETD5, SI, SLC25A38, SLC2A2, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SUMF1, TDGF1, TF, TFRC, TMEM43, TMIE, TREX1, TRNT1, UROC1, XPC,
ABHD5 Chanarin-Dorfman syndrome
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
AMT Glycine encephalopathy
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN7 Spinocerebellar ataxia 7
BCHE Butyrlcholinesterase deficiency
BTD Biotinidase deficiency
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CAV3 Cardiomyopathy, familial hypertrophic
Long QT syndrome 9
Creatine phosphokinase, elevated serum
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC39 Ciliary dyskinesia, primary, 14
CCDC50 Deafness, autosomal dominant 44
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CEP19 Morbid obesity and spermatogenic failure
CEP63 Seckel syndrome 6
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
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
CP Aceruloplasminemia
Hypoceruloplasminemia
CPOX Coproporphyria
Harderoporphyria
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CRTAP Osteogenesis imperfecta, type VII
CSTA Peeling skin syndrome 4
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
DNAH1 Spermatogenic failure
DNASE1L3 Systemic lupus erythematosus 16
EIF2B5 Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
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
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
GYG1 Glycogen storage disease XV
HGD Alkaptonuria
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL17RC Candiasis, familial, 9
IL17RD Hypogonadotropic hypogonadism 18, with or without anosmia
ILDR1 Deafness, autosomal recessive 42
IMPG2 Retinitis pigmentosa 56
IQCB1 Senior-Loken syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
JAGN1 Neutropenia, severe congenital, 6
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
LAMB2 Pierson syndrome
Nephrotic syndrome, type 5, with or without ocular abnormalities
LARS2 Perrault syndrome 4
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
OPA1 Glaucoma, normal tension, susceptibility to
P2RY12 Bleeding disorder, platelet-type, 8
PBRM1 Clear cell renal cell carcinoma
PCCB Propionic acidemia
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
PLOD2 Bruck syndrome 2
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
QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
RAB7A Charcot-Marie-Tooth disease, axonal, type 2B
RFT1 Congenital disorder of glycosylation, type In
RNF168 RIDDLE syndrome
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
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
SUMF1 Multiple sulfatase deficiency
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFRC Immunodeficiency 46
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
UROC1 Urocanase deficiency
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 7472
Number of Genes: 536

Export to: CSV

A4GNT

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 94533-0209701724_ms_onbait 3 rs2246945
dbSNP Clinvar
137843476 5760888.0 G T PASS 1/1 161 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 94533-0209701724_ms_onbait 3 rs79791762
dbSNP Clinvar
137849888 164117.15 C T PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.01218 0.01218 0.02091 0.30 0.62 None None None None None None A4GNT|0.020635171|73.87%
View 94533-0209701724_ms_onbait 3 rs2170309
dbSNP Clinvar
137843106 3785228.27 T C PASS 1/1 85 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%
View 94533-0209701724_ms_onbait 3 rs2724691
dbSNP Clinvar
137850003 4282977.76 A G PASS 1/1 102 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs1803155
dbSNP Clinvar
151545601 6086204.3 G A PASS 0/1 151 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs1972977
dbSNP Clinvar
151463421 2671015.35 G T PASS 0/1 140 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs3749442
dbSNP Clinvar
183660585 1322988.81 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.24900 0.24900 0.17080 None None None None None None ABCC5|0.264803016|30.31%
View 94533-0209701724_ms_onbait 3 rs939336
dbSNP Clinvar
183685534 2718661.69 A G PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View 94533-0209701724_ms_onbait 3 rs1132776
dbSNP Clinvar
183696402 1481416.01 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%

ABHD14B

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 94533-0209701724_ms_onbait 3 rs202192380
dbSNP Clinvar
52005634 609.52 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.00 None None None None None None ABHD14B|0.111110398|49%,ABHD14A|0.036596128|66.94%

ABHD5

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 94533-0209701724_ms_onbait 3 rs757742884
dbSNP Clinvar
43743740 1605.51 G A PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.55 0.00 None None None None None None ABHD5|0.204529043|36.17%

ABI3BP

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 94533-0209701724_ms_onbait 3 rs73135597
dbSNP Clinvar
100560860 391541.27 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.10024 0.10020 0.08 0.00 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 94533-0209701724_ms_onbait 3 rs35703629
dbSNP Clinvar
127394820 184170.52 C T PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.11522 0.11520 0.16818 None None None None None None ABTB1|0.075523365|56.17%

AC018816.3

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 94533-0209701724_ms_onbait 3 rs1051559
dbSNP Clinvar
4867510 660146.16 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.16673 0.16670 None None None None None None ITPR1|0.673215803|9.28%

ACAA1

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 94533-0209701724_ms_onbait 3 rs156265
dbSNP Clinvar
38170810 608141.04 C G PASS 1/1 73 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs821572
dbSNP Clinvar
132360883 5285010.52 C T PASS 1/1 63 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%

ACAD9

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 94533-0209701724_ms_onbait 3 rs1680778
dbSNP Clinvar
128614185 1019960.42 A C PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.54333 0.54330 0.45025 None None None None None None ACAD9|0.037542625|66.62%

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 94533-0209701724_ms_onbait 3 rs6437374
dbSNP Clinvar
195076877 3174836.88 C G PASS 1/1 120 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 94533-0209701724_ms_onbait 3 rs2228468
dbSNP Clinvar
42907112 3417876.95 A C PASS 1/1 54 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%

ACPL2

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 94533-0209701724_ms_onbait 3 rs11556022
dbSNP Clinvar
140997320 530362.69 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.08906 0.08906 0.12733 None None None None None None PXYLP1|0.09254292|52.7%

ACPP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs2228402
dbSNP Clinvar
132068831 1960265.97 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.39557 0.39560 0.49969 None None None None None None ACPP|0.270639599|29.85%
View 94533-0209701724_ms_onbait 3 rs2071505
dbSNP Clinvar
132075707 3083311.41 A G PASS 0/1 78 None None None 0.39617 0.39620 0.49946 None None None None None None ACPP|0.270639599|29.85%

ACTL6A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs1132429
dbSNP Clinvar
179298999 3339451.09 C T PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.68051 0.68050 0.39751 None None None None None None ACTL6A|0.89447236|3.58%

ACTR8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs4687757
dbSNP Clinvar
53906513 2226998.06 G A PASS 0/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%
View 94533-0209701724_ms_onbait 3 rs1046677
dbSNP Clinvar
53905308 2088451.26 T C PASS 0/1 72 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs2070489
dbSNP Clinvar
38519424 2637538.56 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%
View 94533-0209701724_ms_onbait 3 rs1046048
dbSNP Clinvar
38524742 2935309.93 C T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.35324 0.35320 0.43857 None None None None None None ACVR2B|0.559847657|13.37%

ADAMTS9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs6771712
dbSNP Clinvar
64587818 588145.75 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.05851 0.05851 0.09380 None None None None None None ADAMTS9|0.249096385|31.58%

ADCY5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs4678027
dbSNP Clinvar
123167249 2408244.87 G A PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

ADIPOQ

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs2241766
dbSNP Clinvar
186570892 622287.69 T G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.15136 0.15140 0.09250 None None None None None None ADIPOQ|0.239416973|32.49%

ADPRH

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 94533-0209701724_ms_onbait 3 rs20569
dbSNP Clinvar
119305169 379517.81 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.19888 0.19890 0.19145 None None None None None None ADPRH|0.089216076|53.4%

AGTR1

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 94533-0209701724_ms_onbait 3 rs5182
dbSNP Clinvar
148459395 3409028.34 C T PASS 1/1 159 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs4917
dbSNP Clinvar
186337713 4371045.25 T C PASS 0/1 73 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 94533-0209701724_ms_onbait 3 rs4918
dbSNP Clinvar
186338382 4121434.27 G C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.71366 0.71370 0.34261 0.36 0.00 None None None None None None AHSG|0.045377146|64.1%
View 94533-0209701724_ms_onbait 3 rs1071592
dbSNP Clinvar
186338425 6373233.39 A C PASS 1/1 107 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs352168
dbSNP Clinvar
52237970 1513921.61 C T PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.47263 None None None None None None ALAS1|0.153297782|42.48%

ALCAM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs579565
dbSNP Clinvar
105260518 933026.45 G A PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.23682 0.23680 0.24320 None None None None None None ALCAM|0.549351292|13.76%
View 94533-0209701724_ms_onbait 3 rs599278
dbSNP Clinvar
105260596 3443536.6 T C PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%

ALG1L

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 94533-0209701724_ms_onbait 3 rs3828357
dbSNP Clinvar
125648356 253228.0 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.32677 0.03 0.16 None None None None None None ALG1L|0.003997673|87.03%

ALS2CL

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 94533-0209701724_ms_onbait 3 rs7625303
dbSNP Clinvar
46713457 2079512.62 C G PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.25040 0.25040 0.19768 None None None None None None ALS2CL|0.023531697|72.41%
View 94533-0209701724_ms_onbait 3 rs13080080
dbSNP Clinvar
46722692 4577445.43 G T PASS 1/1 85 None None None 0.64876 0.64880 0.36123 None None None None None None ALS2CL|0.023531697|72.41%
View 94533-0209701724_ms_onbait 3 rs7642448
dbSNP Clinvar
46729757 1011572.94 C G PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.44848 0.44850 0.42134 0.19 0.69 None None None None None None ALS2CL|0.023531697|72.41%

AMT

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs11715915
dbSNP Clinvar
49455330 1466787.06 C T PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.20128 0.20130 0.28894 None None None None None None AMT|0.121814871|47.17%

ANKRD28

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 94533-0209701724_ms_onbait 3 rs2470549
dbSNP Clinvar
15737698 4347965.65 T C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.41294 0.41290 0.47133 None None None None None None ANKRD28|0.433008795|19.04%
View 94533-0209701724_ms_onbait 3 rs2470548
dbSNP Clinvar
15737689 4457751.56 G A PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%

ANKUB1

Omim - GeneCards - NCBI
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 94533-0209701724_ms_onbait 3 rs77152758
dbSNP Clinvar
149498132 64825.49 C A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.01161 None None None None None None ANKUB1|0.042457252|64.97%
View 94533-0209701724_ms_onbait 3 rs7630153
dbSNP Clinvar
149488442 1341281.57 A G PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.32847 0.32850 0.38984 None None None None None None ANKUB1|0.042457252|64.97%

ANO10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs6441771
dbSNP Clinvar
43414318 2760691.73 A G PASS 1/1 69 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs843366
dbSNP Clinvar
183900680 1281441.08 G C PASS 1/1 54 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 94533-0209701724_ms_onbait 3 rs843365
dbSNP Clinvar
183900729 2195394.74 T C PASS 1/1 55 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs1131095
dbSNP Clinvar
49714225 2480169.81 T C PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.20268 0.20270 0.28287 None None None None None None APEH|0.758566241|6.88%

ARHGAP31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs4688001
dbSNP Clinvar
119118104 5372374.52 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%
View 94533-0209701724_ms_onbait 3 rs3732413
dbSNP Clinvar
119133183 5866333.73 G A PASS 0/1 90 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs12497267
dbSNP Clinvar
153839960 9945830.15 T C PASS 1/1 73 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 94533-0209701724_ms_onbait 3 rs12493885
dbSNP Clinvar
153839866 9509412.15 G C PASS 1/1 81 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%
View 94533-0209701724_ms_onbait 3 rs59508481
dbSNP Clinvar
153839959 7875369.98 C T PASS 1/1 71 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%

ARHGEF3

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 94533-0209701724_ms_onbait 3 rs3732511
dbSNP Clinvar
56766435 596004.38 C G PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.25659 0.25660 0.15470 None None None None None None ARHGEF3|0.535419787|14.4%
View 94533-0209701724_ms_onbait 3 rs6765444
dbSNP Clinvar
56763619 800958.27 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18476 None None None None None None ARHGEF3|0.535419787|14.4%
View 94533-0209701724_ms_onbait 3 rs1565376
dbSNP Clinvar
56763316 5150972.62 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.73023 0.73020 0.44410 None None None None None None ARHGEF3|0.535419787|14.4%
View 94533-0209701724_ms_onbait 3 rs1565377
dbSNP Clinvar
56763328 5196052.9 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.72844 0.72840 0.44687 None None None None None None ARHGEF3|0.535419787|14.4%
View 94533-0209701724_ms_onbait 3 rs1009118
dbSNP Clinvar
56763525 1255876.84 A G PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18484 None None None None None None ARHGEF3|0.535419787|14.4%

ARPP21

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 94533-0209701724_ms_onbait 3 rs969818
dbSNP Clinvar
35725250 2250220.01 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%
View 94533-0209701724_ms_onbait 3 rs2278757
dbSNP Clinvar
35778773 1656203.99 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.40815 0.40810 0.49338 None None None None None None ARPP21|0.628941513|10.81%
View 94533-0209701724_ms_onbait 3 rs2012153
dbSNP Clinvar
35779750 3432871.94 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.35883 0.35880 None None None None None None ARPP21|0.628941513|10.81%

ASTE1

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 94533-0209701724_ms_onbait 3 rs756657713
dbSNP Clinvar
130733046 35308.43 CT C PASS 0/1 40 FRAME_SHIFT HIGH None None None None None None None ATP2C1|0.628730902|10.83%,ASTE1|0.04522067|64.16%

ATG3

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 94533-0209701724_ms_onbait 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar
112253058 3179274.24 C CA... PASS 1/2 56 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%

ATG7

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 94533-0209701724_ms_onbait 3 rs8154
dbSNP Clinvar
11596302 957306.62 T C PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.32239 None None None None None None ATG7|0.493408428|16.17%

ATP11B

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 94533-0209701724_ms_onbait 3 rs4859142
dbSNP Clinvar
182614493 527977.28 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.14357 0.14360 0.17064 None None None None None None ATP11B|0.419706725|19.59%

ATP13A4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs2130407
dbSNP Clinvar
193210768 2146524.46 A G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%
View 94533-0209701724_ms_onbait 3 rs3796181
dbSNP Clinvar
193183817 2116626.6 A G PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.55411 0.55410 0.48954 None None None None None None ATP13A4|0.189604914|37.86%
View 94533-0209701724_ms_onbait 3 rs6788448
dbSNP Clinvar
193209178 2033701.72 T C PASS 0/1 85 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%

ATP13A5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs2280268
dbSNP Clinvar
193031926 2022689.34 C T PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.53075 0.53080 0.46094 0.44 0.07 None None None None None None ATP13A5|0.051025682|62.36%
View 94533-0209701724_ms_onbait 3 rs6797429
dbSNP Clinvar
193080414 1266947.52 C G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.51378 0.51380 0.44895 1.00 0.00 None None None None None None ATP13A5|0.051025682|62.36%
View 94533-0209701724_ms_onbait 3 rs11926955
dbSNP Clinvar
193042776 2876550.37 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%
View 94533-0209701724_ms_onbait 3 rs6788770
dbSNP Clinvar
193036794 2334564.15 G C PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%

ATP2B2

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 94533-0209701724_ms_onbait 3 rs35678
dbSNP Clinvar
10379923 1894349.14 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%
View 94533-0209701724_ms_onbait 3 rs751122
dbSNP Clinvar
10420087 896340.32 T C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.49321 0.49320 0.36099 None None None None None None ATP2B2|0.393540983|21.16%

ATR

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 94533-0209701724_ms_onbait 3 rs2227928
dbSNP Clinvar
142281612 2981830.13 A G PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.59744 0.59740 0.33769 0.63 0.00 None None None None None None ATR|0.696057424|8.61%
View 94533-0209701724_ms_onbait 3 rs1802904
dbSNP Clinvar
142168331 8165589.03 C T PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%
View 94533-0209701724_ms_onbait 3 rs147286949
dbSNP Clinvar
142269106 17904.47 T G PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00200 None None None None None None ATR|0.696057424|8.61%
View 94533-0209701724_ms_onbait 3 rs2227929
dbSNP Clinvar
142277536 8037128.5 A G PASS 1/1 478 SYNONYMOUS_CODING LOW None 0.31070 0.31070 0.34576 None None None None None None ATR|0.696057424|8.61%
View 94533-0209701724_ms_onbait 3 rs2227930
dbSNP Clinvar
142277575 13079191.9 A T PASS 1/1 447 SYNONYMOUS_CODING LOW None 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%
View 94533-0209701724_ms_onbait 3 rs2227931
dbSNP Clinvar
142222284 1226507.51 A G PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.31250 0.31250 0.34957 None None None None None None ATR|0.696057424|8.61%

ATXN7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs3774729
dbSNP Clinvar
63982082 2438853.11 G A PASS 0/1 121 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 94533-0209701724_ms_onbait 3 . 63898360 130475.67 GG... GG... PASS 0/1 7 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATXN7|0.45901663|17.72%
View 94533-0209701724_ms_onbait 3 rs1053338
dbSNP Clinvar
63967900 916899.81 A G PASS 0/1 68 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%

B4GALT4

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 94533-0209701724_ms_onbait 3 rs4422294
dbSNP Clinvar
118948716 1278616.93 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22159 None None None None None None B4GALT4|0.059766507|59.94%

BBX

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 94533-0209701724_ms_onbait 3 rs34531902,rs397757043
dbSNP Clinvar
107491758 424606.72 TAGA T PASS 0/1 36 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.03734 0.03734 0.08853 None None None None None None BBX|0.689204143|8.82%

BCHE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs1799807
dbSNP Clinvar
165548529 112462.37 T C PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.00599 0.00599 0.01392 0.00 0.68 None None None None None None BCHE|0.536654702|14.36%

BCL6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs1056932
dbSNP Clinvar
187447032 4302526.47 G A PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.56530 0.56530 0.49739 None None None None None None BCL6|0.913517921|3.15%

BSN

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs71324983
dbSNP Clinvar
49680225 8086.07 C T PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00123 None None None None None None BSN|0.190182415|37.78%
View 94533-0209701724_ms_onbait 3 rs34762726
dbSNP Clinvar
49689210 1000867.88 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.20887 0.20890 0.28799 0.66 0.01 None None None None None None BSN|0.190182415|37.78%
View 94533-0209701724_ms_onbait 3 rs4855885
dbSNP Clinvar
49690199 5611489.31 G A PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.91354 0.91350 0.16100 None None None None None None BSN|0.190182415|37.78%
View 94533-0209701724_ms_onbait 3 rs11709525
dbSNP Clinvar
49690496 3513502.86 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.28718 None None None None None None BSN|0.190182415|37.78%
View 94533-0209701724_ms_onbait 3 rs2005557
dbSNP Clinvar
49701298 2563254.85 G A PASS 0/1 50 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%
View 94533-0209701724_ms_onbait 3 rs9858542
dbSNP Clinvar
49701983 893077.27 G A PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.19529 0.19530 0.27841 None None None None None None BSN|0.190182415|37.78%

BTD

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 94533-0209701724_ms_onbait 3 rs2019160
dbSNP Clinvar
15643043 11387976.44 A G PASS 0/1 164 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
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs9288952
dbSNP Clinvar
112185025 6237853.78 G A PASS 1/1 133 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 94533-0209701724_ms_onbait 3 rs2931761
dbSNP Clinvar
112190137 6948121.62 G T PASS 1/1 97 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
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 3 rs2306857
dbSNP Clinvar
112727184 4590515.52 A T PASS 1/1 142 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%