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+ Genes 477

Genes:
AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACAT2, AGER, AIF1, AIM1, AK9, AKAP12, ANKRD6, ANKRD66, ANKS1A, APOM, ARG1, ARHGAP18, ARMC12, ASCC3, ATXN1, B3GAT2, BAI3, BAK1, BCKDHB, BCLAF1, BEND3, BMP5, BMP6, BPHL, BRD2, BTN2A2, BTNL2, C2, C4B, C6ORF165, C6orf1, C6orf10, C6orf132, C6orf141, C6orf15, C6orf201, C6orf223, C6orf47, C6orf89, CAGE1, CAP2, CAPN11, CCDC170, CCHCR1, CCND3, CD109, CD2AP, CDC5L, CDSN, CENPQ, CENPW, CEP57L1, CEP85L, CFB, CMTR1, CNPY3, COL10A1, COL11A2, COL12A1, COL19A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CSNK2B, CTGF, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDR1, DDX39B, DDX43, DEF6, DEK, DHX16, DLL1, DNAH8, DOPEY1, DPCR1, DSE, DSP, DST, DUSP22, ECT2L, EDN1, EHMT2, ELOVL5, ENPP3, ENPP4, ENPP5, EPHA7, EPM2A, ESR1, EYS, F13A1, FAM135A, FAM217A, FAM26D, FAM26F, FAM46A, FAM65B, FAM83B, FANCE, FARS2, FAXC, FBXO30, FGD2, FHL5, FIG4, FNDC1, FOXF2, FOXQ1, FRMD1, FUT9, GABBR1, GABRR1, GCM2, GCNT2, GFRAL, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GNL1, GOPC, GPANK1, GPLD1, GPR115, GPR116, GPR126, GPR31, GPR63, GPRC6A, GRIK2, GRM1, GRM4, GSTA2, GSTA5, GTF2H4, GTPBP2, HACE1, HBS1L, HCRTR2, HDGFL1, HECA, HINT3, HIST1H1T, HIST1H2AA, HIST1H2AC, HIST1H2BE, HIST1H2BF, HIST1H2BK, HIST1H4C, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HMGN4, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HUS1B, IER3, IGF2R, IL17F, IL20RA, IMPG1, IP6K3, IRAK1BP1, ITPR3, IYD, JARID2, KCNK17, KCNQ5, KDM1B, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1009, KIAA1586, KIAA1919, KIF13A, KIF25, KIF6, KLHL31, L3MBTL3, LAMA2, LAMA4, LCA5, LPA, LRFN2, LRRC16A, LTA, LTV1, LY6G5B, LY6G6C, LY6G6D, LY6G6F, LYRM4, MAK, MAN1A1, MAP3K4, MAP3K5, MAP7, MAPK13, MB21D1, MCCD1, MCM3, MCM9, MCUR1, MDGA1, MDN1, ME1, MEA1, MED23, MEP1A, METTL24, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOCS1, MOG, MPC1, MRPL14, MRPL18, MRPS10, MSH5, MTCH1, MTHFD1L, MUC21, MUC22, MUT, MYO6, NCOA7, NCR2, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAPL, NOTCH4, NQO2, NT5E, NUP153, OOEP, OPRM1, OR10C1, OR12D2, OR12D3, OR14J1, OR2B6, OR2H2, OR2W1, OR5V1, PAK1IP1, PAQR8, PBX2, PDE10A, PERP, PEX6, PGBD1, PHF1, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNPLA1, POLH, POM121L2, POU3F2, PPARD, PPP1R11, PPP1R18, PPP1R3G, PPT2, PRDM1, PRDM13, PREP, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB1, PSMB9, PSMG4, PSORS1C2, PTCHD4, PTCRA, PTPRK, PXDC1, RAB44, RAET1E, RAET1L, REV3L, RFPL4B, RGL2, RIMS1, RIOK1, RIPK1, RNF217, RNF39, RNF8, ROS1, RPP21, RPP40, RPS6KA2, RREB1, RSPH4A, RXRB, SAMD5, SAPCD1, SASH1, SCAND3, SCML4, SEC63, SENP6, SERPINB6, SFTA2, SGK1, SHPRH, SIM1, SIRT5, SKIV2L, SLC16A10, SLC17A1, SLC17A4, SLC22A1, SLC22A16, SLC22A2, SLC22A3, SLC22A7, SLC25A27, SLC39A7, SLC44A4, SMAP1, SMPD2, SNAP91, SNX9, SOBP, SOGA3, SPATS1, SSR1, STXBP5, SUMO4, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR1, TAAR5, TAAR9, TAB2, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D32, TBCC, TBP, TCP10, TCP10L2, TCTE1, TDP2, TDRD6, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM151B, TMEM170B, TMEM244, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML4, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TSPYL1, TSPYL4, TTBK1, TTLL2, TULP1, TULP4, TXNDC5, UBD, UBR2, UFL1, ULBP2, ULBP3, UNC93A, USP45, USP49, UTRN, VARS, VARS2, VNN1, VNN2, VPS52, WDR27, WDR46, WISP3, WRNIP1, WTAP, XPO5, YIPF3, ZBTB2, ZBTB22, ZBTB24, ZBTB9, ZC3H12D, ZDHHC14, ZFP57, ZKSCAN3, ZKSCAN4, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF451, ZNF76, ZSCAN31, ZUFSP,

+ Genes associated with diseases 114

Genes at Omim

AARS2, ACAT2, ARG1, ATXN1, BCKDHB, BTNL2, C2, C4B, CD2AP, CDSN, CFB, CNPY3, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DEK, DSE, DSP, DST, EDN1, ELOVL5, EPM2A, ESR1, EYS, F13A1, FANCE, FARS2, FIG4, GCM2, GCNT2, GRIK2, GRM1, GTPBP2, HACE1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, IGF2R, IL17F, IMPG1, ITPR3, IYD, KCNQ5, KHDC3L, LAMA2, LAMA4, LCA5, LPA, LTA, LYRM4, MAK, MCM9, MED23, MOCS1, MOG, MSH5, MUT, MYO6, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, PDE10A, PEX6, PHIP, PLA2G7, PLG, PNPLA1, POLH, PRPH2, PSMB9, RIMS1, RIPK1, RSPH4A, SASH1, SEC63, SERPINB6, SIM1, SKIV2L, SLC44A4, SOBP, SUMO4, SYNE1, SYNGAP1, T, TAB2, TAP1, TAP2, TAPBP, TBP, TDP2, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TULP1, VARS, VARS2, VNN1, WISP3, ZBTB24, ZFP57,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
ARG1 Argininemia, 207800 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BCKDHB Maple syrup urine disease, type Ib, 248600 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
C2 C2 deficiency, 217000 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C4B C4B deficiency, 614379 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CDSN Hypotrichosis 2, 146520 (3)
Peeling skin syndrome 1, 270300 (3)
CFB {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
?Complement factor B deficiency, 615561 (3)
CNPY3 Epileptic encephalopathy, early infantile, 60, 617929 (3)
COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A2 Fibrochondrogenesis 2, 614524 (3)
Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL9A1 ?Epiphyseal dysplasia, multiple, 6, 614135 (3)
Stickler syndrome, type IV, 614134 (3)
CUL7 3-M syndrome 1, 273750 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2 ?Deafness, autosomal recessive 66, 610212 (3)
Nephronophthisis 19, 616217 (3)
Sclerosing cholangitis, neonatal, 617394 (3)
DEK Leukemia, acute nonlymphocytic (2)
DSE Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EDN1 {High density lipoprotein cholesterol level QTL 7} (3)
Auriculocondylar syndrome 3, 615706 (3)
Question mark ears, isolated, 612798 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EPM2A Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ESR1 {HDL response to hormone replacement, augmented} (3)
Breast cancer, somatic, 114480 (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
FIG4 Amyotrophic lateral sclerosis 11, 612577 (3)
Charcot-Marie-Tooth disease, type 4J, 611228 (3)
?Polymicrogyria, bilateral temporooccipital, 612691 (3)
Yunis-Varon syndrome, 216340 (3)
GCM2 Hyperparathyroidism 4, 617343 (3)
Hypoparathyroidism, familial isolated, 146200 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GRIK2 Mental retardation, autosomal recessive, 6, 611092 (3)
GRM1 Spinocerebellar ataxia 44, 617691 (3)
Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
HIVEP2 Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IGF2R Hepatocellular carcinoma, somatic, 114550 (3)
IL17F ?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
IMPG1 Macular dystrophy, vitelliform, 4, 616151 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
IYD Thyroid dyshormonogenesis 4, 274800 (3)
KCNQ5 Mental retardation, autosomal dominant 46, 617601 (3)
KHDC3L Hydatidiform mole, recurrent, 2, 614293 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5 Leber congenital amaurosis 5, 604537 (3)
LPA [LPA deficiency, congenital] (3)
{Coronary artery disease, susceptibility to} (1)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
LYRM4 ?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MCM9 Ovarian dysgenesis 4, 616185 (3)
MED23 Mental retardation, autosomal recessive 18, 614249 (3)
MOCS1 Molybdenum cofactor deficiency A, 252150 (3)
MOG ?Narcolepsy 7, 614250 (3)
MSH5 ?Premature ovarian failure 13, 617442 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
MYO6 Deafness, autosomal dominant 22, 606346 (3)
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)
Deafness, autosomal recessive 37, 607821 (3)
NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NFKBIL1 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2 {?Breast cancer susceptibility}, 114480 (1)
NT5E Calcification of joints and arteries, 211800 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
PHIP Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PLG Dysplasminogenemia, 217090 (3)
Plasminogen deficiency, type I, 217090 (3)
PNPLA1 Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (3)
PRPH2 Choroidal dystrophy, central areolar 2, 613105 (3)
Leber congenital amaurosis 18, 608133 (3)
Macular dystrophy, patterned, 1, 169150 (3)
Macular dystrophy, vitelliform, 3, 608161 (3)
Retinitis pigmentosa 7 and digenic form, 608133 (3)
Retinitis punctata albescens, 136880 (3)
PSMB9 ?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RSPH4A Ciliary dyskinesia, primary, 11, 612649 (3)
SASH1 Dyschromatosis universalis hereditaria 1, 127500 (3)
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63 Polycystic liver disease 2, 617004 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SIM1 Obesity, severe, 601665 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC44A4 ?Deafness, autosomal dominant 72, 617606 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SUMO4 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
T {Neural tube defects, susceptibility to}, 182940 (3)
Sacral agenesis with vertebral anomalies, 615709 (3)
TAB2 Congenital heart defects, nonsyndromic, 2, 614980 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
THBS2 {Lumbar disc herniation, susceptibility to}, 603932 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAF3IP2 {Psoriasis susceptibility 13}, 614070 (3)
?Candidiasis, familial, 8, 615527 (3)
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TULP1 Leber congenital amaurosis 15, 613843 (3)
Retinitis pigmentosa 14, 600132 (3)
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VNN1 [High density lipoprotein cholesterol level QTL 8] (3)
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3)
ZFP57 Diabetes mellitus, transient neonatal, 1, 601410 (3)

Genes at Clinical Genomics Database

AARS2, ARG1, ATXN1, BCKDHB, C2, C4B, CD2AP, CDSN, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DLL1, DSE, DSP, DST, EDN1, ELOVL5, EPM2A, ESR1, EYS, F13A1, FAM65B, FANCE, FARS2, FIG4, GCM2, GCNT2, GRIK2, GRM1, HACE1, HLA-A, HLA-B, HSPA1L, IL17F, IMPG1, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LPA, LYRM4, MAK, MCM9, MED23, MOCS1, MOG, MPC1, MUT, MYO6, NDUFAF4, NHLRC1, NT5E, PDE10A, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, POLH, PRPH2, RIMS1, RSPH4A, SEC63, SERPINB6, SKIV2L, SOBP, SYNE1, SYNGAP1, T, TAB2, TAP1, TAP2, TAPBP, TBP, TDP2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TULP1, VARS2, WISP3, ZBTB24, ZFP57,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ARG1 Hyperargininemia
ATXN1 Spinocerebellar ataxia 1
BCKDHB Maple syrup urine disease, type Ib
C2 Complement component 2 deficiency
C4B Complement component 4B deficiency
CD2AP Focal segmental glomerulosclerosis 3
CDSN Hypotrichosis 2
Peeling skin syndrome 1
CFB Hemolytic uremic syndrome, atypical
Complement factor B deficiency
COL10A1 Metaphyseal chondrodysplasia, Schmid type
COL11A2 Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL9A1 Stickler syndrome, type IV
CUL7 Three M syndrome 1
Yakut short stature syndrome
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2 Deafness, autosomal recessive 66
DLL1 Holoprosencephaly
DSE Ehlers-Danlos syndrome, musculocontractural type 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST Neuropathy, hereditary sensory and autonomic, type VI
EDN1 Dominant Isolated Question-Mark Ears
Auriculocondylar Syndrome 3
ELOVL5 Spinocerebellar ataxia 39
EPM2A Epilepsy, progressive myoclonic 2A (Lafora)
ESR1 Estrogen resistance
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
FARS2 Combined oxidative phosphorylation deficiency 14
FIG4 Amyotrophic lateral sclerosis 11
Charcot-Marie Tooth disease, autosomal recessive, type 4J
Polymicrogyria, bilateral occipital
Yunis-Varon syndrome
GCM2 Hypoparathyroidism, familial isolated
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GRIK2 Mental retardation, autosomal recessive 6
GRM1 Spinocerebellar ataxia, autosomal recessive 13
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HSPA1L Abacavir, susceptibility to toxicity with
IL17F Candidiasis, familial, 6
IMPG1 Macular dystrophy, vitelliform, 4
IYD Thyroid dyshormonogenesis 4
KHDC3L Hydatidiform mole, recurrent, 2
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
LAMA4 Cardiomyopathy, dilated, 1JJ
LCA5 Leber congenital amaurosis 5
LPA Lipoprotein A deficiency, congenital
LYRM4 Combined oxidative phosphorylation deficiency 19
MAK Retinitis pigmentosa 62
MCM9 Ovarian dysgenesis 4
MED23 Mental retardation, autosomal recessive 18
MOCS1 Molybdenum cofactor deficiency, type A
MOG Narcolepsy 7
MPC1 Mitochondrial pyruvate carrier deficiency
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
MYO6 Deafness, autosomal recessive 37
NDUFAF4 Mitochondrial complex I deficiency
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NT5E Calcification of joints and arteries
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PEX6 Heimler syndrome 2
PKHD1 Polycystic kidney disease, autosomal recessive
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PLG Plasminogen deficiency, type I
PNPLA1 Ichthyosis, congenital, autosomal recessive 10
POLH Xeroderma pigmentosum, variant type
PRPH2 Choriodal dystrophy, central areolar 2
Retinitis punctata albescens
Macular dystrophy, vitelliform 3
Macula dystrophy, patterned 1
Retinitis pigmentosa 7
RIMS1 Cone-rod dystrophy 7
RSPH4A Ciliary dyskinesia, primary, 11
SEC63 Polycystic liver disease
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1 Mental retardation, autosomal dominant 5
T Chordoma
TAB2 Congenital heart defects, multiple types, 2
TAP1 Bare lymphocyte syndrome, type I
TAP2 Bare lymphocyte syndrome, type I
TAPBP Bare lymphocyte syndrome, type I
TBP Spinocerebellar ataxia 17
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT Thiopurine S-methyltransferase deficiency
TRAF3IP2 Candidiasis, familial 8
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development
TULP1 Leber congenital amaurosis 15
Retinitis pigmentosa 14
VARS2 Combined oxidative phosphorylation deficiency 20
WISP3 Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Arthropathy, progressive pseudorheumatoid, of childhood
ZBTB24 Immunodeficiency-Centromeric Instability-Facial Anomalies 2
ZFP57 Diabetes mellitus, transient neonatal, 1

Genes at HGMD

Summary

Number of Variants: 1742
Number of Genes: 477

Export to: CSV

AARS2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs324136
dbSNP Clinvar 		44275011 4471.03 T C PASS 1/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88898 0.88900 0.11341 0.96 0.00 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs498512
dbSNP Clinvar 		44269193 399.6 C T PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.58267 0.58270 0.32101 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs325008
dbSNP Clinvar 		44268371 4078.03 T C PASS 1/1 152 SYNONYMOUS_CODING LOW SILENT 0.86941 0.86940 0.12886 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ABCC10
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 . 43403597 1083.6 C G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.01 None None None None None None ABCC10|0.125839341|46.49%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2277122
dbSNP Clinvar 		43406501 1096.6 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.08007 0.08007 0.03506 None None None None None None ABCC10|0.125839341|46.49%

ABCF1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs72545970,rs4148252
dbSNP Clinvar 		30558477 5205.06 G GA PASS 1/1 140 None None None 0.71406 0.71410 0.30404 None None None None None None ABCF1|0.199313589|36.78%

ABHD16A
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1475865
dbSNP Clinvar 		31657413 4026.03 T C PASS 1/1 152 SYNONYMOUS_CODING LOW SILENT 0.81609 0.81610 0.27590 None None None None None None ABHD16A|0.218787308|34.5%

ABT1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3800302
dbSNP Clinvar 		26597333 3121.03 A G PASS 1/1 114 SYNONYMOUS_CODING LOW SILENT 0.70867 0.70870 0.35268 None None None None None None ABT1|0.032342215|68.44%

ACAT2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3464
dbSNP Clinvar 		160198359 1738.03 C T PASS 1/1 65 SYNONYMOUS_CODING LOW SILENT 0.26118 0.26120 0.17992 None None None None None None ACAT2|0.090493467|53.12%

AGER
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1800684
dbSNP Clinvar 		32151994 6546.03 A T PASS 1/1 242 SYNONYMOUS_CODING LOW SILENT 0.96426 0.96430 0.09633 None None None None None None AGER|0.358118947|23.58%

AIF1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2736182
dbSNP Clinvar 		31583312 1279.6 G A PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11781 0.11780 0.07927 0.09 0.29 None None None None None None AIF1|0.188520548|38.01%

AIM1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1799693
dbSNP Clinvar 		106992464 542.03 A G PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.96885 0.96880 0.05505 None None None None None None AIM1|0.106090951|49.97%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs11152999
dbSNP Clinvar 		106960447 1645.6 G A PASS 0/1 138 SYNONYMOUS_CODING LOW SILENT 0.25439 0.25440 0.13368 None None None None None None AIM1|0.106090951|49.97%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2297970
dbSNP Clinvar 		106999822 231.6 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19908 0.19910 0.25277 0.42 0.36 None None None None None None AIM1|0.106090951|49.97%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs783396
dbSNP Clinvar 		106987370 891.6 A C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93590 0.93590 0.07135 0.14 0.01 None None None None None None AIM1|0.106090951|49.97%

AK9
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1406957
dbSNP Clinvar 		109954252 412.6 C T PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT 0.65216 0.65220 0.45464 None None None None None None AK9|0.032678932|68.3%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2277114
dbSNP Clinvar 		109827716 554.6 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38039 0.38040 0.35502 0.62 0.00 None None None None None None AK9|0.032678932|68.3%

AKAP12
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2294792
dbSNP Clinvar 		151627034 1320.03 A G PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.23103 0.23100 0.34897 None None None None None None AKAP12|0.001631589|92.22%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs900654
dbSNP Clinvar 		151670897 3256.03 T C PASS 1/1 121 SYNONYMOUS_CODING LOW SILENT 0.71106 0.71110 0.21590 None None None None None None AKAP12|0.001631589|92.22%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar 		151674116 3578.06 T TGAG PASS 1/1 82 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.70387 0.70390 0.22056 None None None None None None AKAP12|0.001631589|92.22%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3734799
dbSNP Clinvar 		151670172 1751.03 A C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.35384 1.00 0.00 None None None None None None AKAP12|0.001631589|92.22%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs10872670
dbSNP Clinvar 		151669875 1257.03 A G PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68670 0.68670 0.24320 1.00 0.00 None None None None None None AKAP12|0.001631589|92.22%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3823310
dbSNP Clinvar 		151674326 2281.03 A C PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43890 0.43890 0.44749 0.44 0.00 None None None None None None AKAP12|0.001631589|92.22%

ANKRD6
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs61739327
dbSNP Clinvar 		90340446 663.6 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08886 0.08886 0.10101 0.06 0.39 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3748085
dbSNP Clinvar 		90315789 942.6 A G PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78175 0.78170 0.19835 1.00 0.00 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs17292811
dbSNP Clinvar 		90333599 3189.03 A G PASS 1/1 115 SYNONYMOUS_CODING LOW SILENT 0.90415 0.90420 0.14826 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3210511
dbSNP Clinvar 		90340276 1698.6 G A PASS 0/1 139 SYNONYMOUS_CODING LOW SILENT 0.60084 0.60080 0.48581 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%

ANKRD66
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9472839
dbSNP Clinvar 		46726500 731.6 C A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10104 0.10100 0.13119 0.28 0.05 None None None None None None ANKRD66|0.026719506|71.02%

ANKS1A
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2177382
dbSNP Clinvar 		35050506 4249.03 G A PASS 1/1 165 SYNONYMOUS_CODING LOW SILENT 0.84425 0.84420 0.18430 None None None None None None ANKS1A|0.453129628|18.02%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs71538280
dbSNP Clinvar 		34857302 1498.64 G GG... PASS 0/1 98 CODON_INSERTION MODERATE None None None None None None ANKS1A|0.453129628|18.02%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2293242
dbSNP Clinvar 		34949607 1398.6 C T PASS 0/1 170 SYNONYMOUS_CODING LOW SILENT 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs820085
dbSNP Clinvar 		35027927 1457.03 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99042 0.99040 0.01299 1.00 0.00 None None None None None None ANKS1A|0.453129628|18.02%

APOM
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs707922
dbSNP Clinvar 		31625507 956.6 G T PASS 0/1 135 None None None 0.17632 0.17630 0.14787 0.19 0.00 None None None None None None APOM|0.162107126|41.28%

ARG1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs34504481
dbSNP Clinvar 		131900390 769.6 C T PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.03075 0.03075 0.04575 None None None None None None ARG1|0.228110173|33.51%,MED23|0.770716603|6.53%

ARHGAP18
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3752536
dbSNP Clinvar 		130031215 1735.6 T C PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81270 0.81270 0.15731 1.00 0.00 None None None None None None ARHGAP18|0.168100451|40.56%

ARMC12
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2817041
dbSNP Clinvar 		35705892 3037.03 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT 0.75939 0.75940 0.20329 None None None None None None ARMC12|0.054383959|61.37%

ASCC3
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs239239
dbSNP Clinvar 		101094554 1710.03 A G PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.57129 0.57130 0.45087 None None None None None None ASCC3|0.710572602|8.22%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9390698
dbSNP Clinvar 		101296389 628.99 G A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24541 0.24540 0.35045 0.22 0.00 None None None None None None ASCC3|0.710572602|8.22%

ATXN1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs179990
dbSNP Clinvar 		16327615 2826.03 A G PASS 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.00120 0.00120 0.29271 None None None None None None ATXN1|0.832563526|5.05%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs864309555
dbSNP Clinvar 		16327915 3771.07 A ATGC PASS 0/1 187 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None ATXN1|0.832563526|5.05%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs780549091
dbSNP Clinvar 		16327903 2201.64 C CTGA PASS 0/1 124 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None ATXN1|0.832563526|5.05%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2075974
dbSNP Clinvar 		16327330 2908.03 T C PASS 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.36921 0.36920 0.28095 None None None None None None ATXN1|0.832563526|5.05%

B3GAT2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1574490
dbSNP Clinvar 		71665986 843.6 G A PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.53275 0.53270 0.47522 None None None None None None B3GAT2|0.224931204|33.88%

BAI3
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs913543
dbSNP Clinvar 		70071173 654.6 G A PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.48622 0.48620 0.36812 None None None None None None ADGRB3|0.918272143|3.02%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1932618
dbSNP Clinvar 		69666684 1269.03 A G PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90535 0.90540 0.11725 0.99 0.01 None None None None None None ADGRB3|0.918272143|3.02%

BAK1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs561276
dbSNP Clinvar 		33543116 1861.6 C T PASS 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.03854 0.03854 0.04152 None None None None None None BAK1|0.062715344|59.13%

BCKDHB
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 . 80982905 218.6 C T PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None BCKDHB|0.383323824|21.83%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 . 80881018 80.6 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None BCKDHB|0.383323824|21.83%

BCLAF1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9942518
dbSNP Clinvar 		136599836 209.6 G A PASS 0/1 80 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs62431287
dbSNP Clinvar 		136590698 390.6 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.83 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs62431288
dbSNP Clinvar 		136590712 892.6 C T PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs78118727
dbSNP Clinvar 		136596776 173.6 C G basic_snp_filter 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01030 0.38 0.29 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs7762367
dbSNP Clinvar 		136597004 611.6 A G PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs77469096
dbSNP Clinvar 		136597174 360.6 G A PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03491 0.10 0.94 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1967444
dbSNP Clinvar 		136597262 960.6 T C PASS 0/1 59 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1967445
dbSNP Clinvar 		136597281 824.6 A T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.39 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1967446
dbSNP Clinvar 		136597288 856.6 A C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.26 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs61731960
dbSNP Clinvar 		136597456 431.6 C A PASS 0/1 181 STOP_GAINED HIGH NONSENSE 0.00438 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs6940018
dbSNP Clinvar 		136599393 1644.6 G C PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49820 0.49820 0.05 0.82 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs6919254
dbSNP Clinvar 		136599404 168.6 T C basic_snp_filter 0/1 144 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs6939752
dbSNP Clinvar 		136599458 534.6 C T PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.02922 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9942517
dbSNP Clinvar 		136599822 1109.6 C G PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00000 0.00000 0.00 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9942519
dbSNP Clinvar 		136599842 985.6 G A PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs62431283
dbSNP Clinvar 		136582417 172.6 G A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs62431284
dbSNP Clinvar 		136582497 399.6 G T PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs62431285
dbSNP Clinvar 		136590613 520.6 T C PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT None None None None None None BCLAF1|0.862204176|4.44%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs62431286
dbSNP Clinvar 		136590640 870.6 A C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 None None None None None None BCLAF1|0.862204176|4.44%

BEND3
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3814072
dbSNP Clinvar 		107391213 1469.6 C T PASS 0/1 119 SYNONYMOUS_CODING LOW SILENT 0.06869 0.06869 0.08004 None None None None None None BEND3|0.218793148|34.49%

BMP5
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3734444
dbSNP Clinvar 		55739553 630.6 A G PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.43510 0.43510 0.49054 None None None None None None BMP5|0.960503202|1.95%

BMP6
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs111588693
dbSNP Clinvar 		7727271 181.6 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33986 0.33990 0.21 0.00 None None None None None None BMP6|0.889563802|3.68%

BPHL
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2231357
dbSNP Clinvar 		3118998 649.6 G T PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.06629 0.06629 None None None None None None BPHL|0.02891186|69.92%

BRD2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs3918142,rs483352931
dbSNP Clinvar 		32945698 1423.6 TGAG T PASS 0/1 93 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.02336 0.02336 0.02925 None None None None None None BRD2|0.972652512|1.63%

BTN2A2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2072802
dbSNP Clinvar 		26392934 3620.03 C T PASS 1/1 150 SYNONYMOUS_CODING LOW SILENT 0.01857 0.01857 0.01392 None None None None None None BTN2A2|0.003176243|88.35%

BTNL2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs28362678
dbSNP Clinvar 		32362745 2404.6 G A PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16414 0.16410 0.13778 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs35624343
dbSNP Clinvar 		32361762 965.6 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16294 0.16290 0.37 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs34507608
dbSNP Clinvar 		32361752 833.6 C T PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.11362 0.11360 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs34940131
dbSNP Clinvar 		32361749 838.6 G C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11362 0.11360 0.03 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs28362683
dbSNP Clinvar 		32372963 1109.6 G A PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.13439 0.13440 0.09100 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs28362682
dbSNP Clinvar 		32372863 1875.6 A T PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13419 0.13420 0.09100 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs57116766
dbSNP Clinvar 		32370986 558.6 C A PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.13419 0.13420 0.08395 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs60263670
dbSNP Clinvar 		32370975 1042.6 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13958 0.13960 0.09571 0.56 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs60740710,rs370253771
dbSNP Clinvar 		32370969 1036.6 TG T PASS 0/1 78 FRAME_SHIFT HIGH 0.13419 0.13420 0.09159 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs59129682
dbSNP Clinvar 		32370908 1210.6 T A PASS 0/1 145 SYNONYMOUS_CODING LOW SILENT 0.13419 0.13420 0.09094 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs28362681
dbSNP Clinvar 		32370879 1334.6 C T PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13419 0.13420 0.09116 0.62 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2076523
dbSNP Clinvar 		32370835 1827.6 T C PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39637 0.39640 0.34609 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs28362680
dbSNP Clinvar 		32370816 1658.6 G A PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18870 0.18870 0.10356 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs60036207
dbSNP Clinvar 		32370794 1069.6 C T PASS 0/1 140 SYNONYMOUS_CODING LOW SILENT 0.13419 0.13420 0.09080 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2076529
dbSNP Clinvar 		32363955 1783.6 T C PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.37700 0.37700 0.39147 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2076530
dbSNP Clinvar 		32363816 519.6 T C PASS 0/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.38698 0.38700 0.39699 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs28362677
dbSNP Clinvar 		32362741 2426.6 C T PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16394 0.16390 0.13778 0.55 0.00 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs34926345
dbSNP Clinvar 		32361809 485.6 T C PASS 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.11462 0.11460 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs41535850
dbSNP Clinvar 		32362639 2172.6 G A PASS 0/1 191 SYNONYMOUS_CODING LOW SILENT 0.16394 0.16390 0.13778 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs41449245
dbSNP Clinvar 		32362669 2148.6 T G PASS 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.16394 0.16390 0.13778 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs41342846
dbSNP Clinvar 		32362702 3482.6 T C PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.16394 0.16390 0.00292 None None None None None None BTNL2|0.00846386|82.19%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs41521946
dbSNP Clinvar 		32362703 3482.6 G T PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16394 0.16390 0.00208 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%

C2
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9332739
dbSNP Clinvar 		31903804 632.6 G C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02975 0.02975 0.03069 0.23 0.01 None None None None None None C2|0.093069638|52.58%,CFB|0.075141437|56.27%

C4B
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs2746414
dbSNP Clinvar 		31996966 539.6 G A PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67 0.00 None None None None None None C4B|0.020653435|73.86%
View g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs406658
dbSNP Clinvar 		31996524 915.6 C A PASS 0/1 191 SYNONYMOUS_CODING LOW SILENT 0.22424 0.22420 None None None None None None C4B|0.020653435|73.86%

C6orf1
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs1150781
dbSNP Clinvar 		34214322 2540.03 C G PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76518 0.76520 0.20890 0.00 0.02 None None None None None None C6orf1|0.002910185|88.8%

C6orf10
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 g06400842-ib-ex-60-1791_s19 soft_filtered 6 rs9405090
dbSNP Clinvar 		32298372 559.6 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32708 0.32710 0.31813 0.99 0.00 None None None None None None C6orf10|0.001183307|94.56%