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+ Genes 520

Genes:
AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACAT2, ACOT13, AGER, AGPAT4, AIM1, AK9, AKAP12, AKAP7, ANKRD6, ANKS1A, ARHGAP18, ARMC12, ARMC2, ASCC3, ATF6B, ATXN1, B3GAT2, BACH2, BAG6, BAI3, BAK1, BCLAF1, BMP5, BMP6, BRD2, BTBD9, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, C4A, C4B, C6orf1, C6orf10, C6orf118, C6orf132, C6orf141, C6orf15, C6orf195, C6orf201, C6orf211, C6orf222, C6orf223, C6orf47, CAP2, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDC5L, CDKAL1, CDSN, CDYL, CENPQ, CEP85L, CFB, CLDN20, CLPSL2, CNKSR3, CNPY3, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CTGF, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DACT2, DCBLD1, DCDC2, DDO, DDR1, DDX39B, DEF6, DEK, DHX16, DLK2, DPCR1, DSE, DSP, DST, DUSP22, ECI2, EDN1, EFHC1, EGFL8, EHMT2, ELOVL2, ENPP1, ENPP4, ENPP5, EPHA7, EPM2A, ERMARD, ESR1, ETV7, EYS, F13A1, FAM120B, FAM135A, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FANCE, FAXC, FBXO5, FGD2, FHL5, FIG4, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, GABRR1, GABRR2, GCNT2, GFRAL, GJB7, GLP1R, GLTSCR1L, GLYATL3, GMPR, GNL1, GPANK1, GPLD1, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPSM3, GRIK2, GRM1, GSTA1, GSTA2, GSTA5, GTPBP2, HCRTR2, HDGFL1, HEBP2, HECA, HEY2, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H2AA, HIST1H2AB, HIST1H2AL, HIST1H2BE, HIST1H2BF, HIST1H2BL, HIST1H3C, HIST1H3I, HIST1H3J, HIST1H4H, HIST1H4K, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGN4, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HUS1B, ICK, IER3, IGF2R, IL17F, IL20RA, IL22RA2, IMPG1, IP6K3, IPCEF1, ITPR3, IYD, JARID2, KATNA1, KCNQ5, KCTD20, KDM1B, KHDRBS2, KIAA0319, KIAA1586, KIAA1919, KIF13A, KIF25, KIF6, KLC4, KLHL31, KPNA5, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LPA, LRFN2, LRP11, LRRC16A, LTA, LYRM2, LYRM4, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP7, MAPK13, MAS1, MB21D1, MCCD1, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MEP1A, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MRAP2, MRPL14, MRPL18, MRPS10, MRS2, MSH5, MTHFD1L, MTRF1L, MUC21, MUC22, MUT, MYCT1, MYLIP, NCOA7, NCR2, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, NUP43, OOEP, OPRM1, OR10C1, OR12D2, OR12D3, OR14J1, OR2B2, OR2H2, OR2J2, OR2J3, OR5V1, PAQR8, PARK2, PCMT1, PDCD2, PDE10A, PERP, PEX6, PGBD1, PGM3, PHACTR2, PHF1, PHF10, PHIP, PKHD1, PLA2G7, PLAGL1, PLEKHG1, PLG, PNLDC1, PNPLA1, PNRC1, POLH, POM121L2, POU3F2, POU5F1, PPARD, PPIL1, PPP1R18, PPP1R3G, PPT2, PRDM1, PREP, PRICKLE4, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTPRK, PXDC1, PXT1, QRSL1, RAET1E, RAET1L, RANBP9, RCAN2, REV3L, RGS17, RIMS1, RING1, RIOK1, RIPK1, RIPPLY2, RMND1, RNF144B, RNF217, RNF5, RNF8, RNGTT, ROS1, RPL7L1, RPP21, RPS6KA2, RREB1, RRP36, RSPH4A, RSPH9, RUNX2, RXRB, SAMD5, SASH1, SCAND3, SCML4, SCUBE3, SEC63, SENP6, SERAC1, SERPINB6, SFT2D1, SFTA2, SGK1, SHPRH, SIM1, SIRT5, SKIV2L, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A1, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B3, SLC44A4, SMAP1, SMLR1, SMPD2, SNAP91, SNRNP48, SOBP, SOD2, SOGA3, SPATS1, STXBP5, SUMO4, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR1, TAAR2, TAAR5, TAF8, TAP2, TAPBP, TBC1D22B, TBC1D32, TBCC, TBP, TBX18, TCF19, TCP10, TCP10L2, TCP11, TCTE1, TDP2, TDRD6, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM151B, TMEM181, TMEM244, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML4, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM38, TRIM40, TSPYL4, TTBK1, TTLL2, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBR2, ULBP1, ULBP2, UNC93A, USP45, USP49, UST, UTRN, VARS, VARS2, VGLL2, VNN1, VNN2, VPS52, VWA7, WASF1, WDR27, WDR46, XPO5, YIPF3, ZBTB2, ZBTB22, ZBTB9, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF184, ZNF292, ZNF318, ZNF322, ZNF451, ZNF76, ZSCAN31,

+ Genes associated with diseases 114

Genes at Omim

AARS2, ACAT2, ATXN1, C4A, C4B, CD2AP, CDSN, CFB, CNPY3, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DEK, DSE, DSP, DST, EDN1, EFHC1, ENPP1, EPM2A, ERMARD, ESR1, EYS, F13A1, FANCE, FIG4, FOXC1, GCNT2, GRIK2, GRM1, GTPBP2, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, ICK, IGF2R, IL17F, IMPG1, ITPR3, IYD, KCNQ5, LAMA2, LAMA4, LCA5, LPA, LTA, LYRM4, MAK, MCM9, MOG, MRAP2, MSH5, MUT, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PDE10A, PEX6, PGM3, PHIP, PLA2G7, PLG, PNPLA1, POLH, PRPH2, PSMB9, RIMS1, RIPK1, RIPPLY2, RMND1, RSPH4A, RSPH9, RUNX2, SASH1, SEC63, SERAC1, SERPINB6, SIM1, SKIV2L, SLC17A3, SLC26A8, SLC44A4, SOBP, SOD2, SUMO4, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBP, TBX18, TDP2, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TULP1, VARS, VARS2, VNN1,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (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)
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)
EFHC1 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3)
{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)
ENPP1 Arterial calcification, generalized, of infancy, 1, 208000 (3)
Cole disease, 615522 (3)
Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
{Obesity, susceptibility to}, 601665 (3)
{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
EPM2A Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ERMARD ?Periventricular nodular heterotopia 6, 615544 (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)
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)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (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)
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)
HLA-G {Asthma, susceptibility to}, 600807 (2)
ICK Endocrine-cerebroosteodysplasia, 612651 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (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)
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)
MOG ?Narcolepsy 7, 614250 (3)
MRAP2 {?Obesity, susceptibility to, BMIQ18}, 615457 (3)
MSH5 ?Premature ovarian failure 13, 617442 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (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)
OR2J3 [C3HEX, ability to smell], 615082 (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)
PGM3 Immunodeficiency 23, 615816 (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)
RIPPLY2 ?Spondylocostal dysostosis 6, 616566 (3)
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 (3)
RSPH4A Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9 Ciliary dyskinesia, primary, 12, 612650 (3)
RUNX2 Cleidocranial dysplasia, 119600 (3)
Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3)
Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3)
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)
SASH1 Dyschromatosis universalis hereditaria 1, 127500 (3)
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63 Polycystic liver disease 2, 617004 (3)
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SIM1 Obesity, severe, 601665 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SLC26A8 Spermatogenic failure 3, 606766 (3)
SLC44A4 ?Deafness, autosomal dominant 72, 617606 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (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)
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)
TBX18 Congenital anomalies of kidney and urinary tract 2, 143400 (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)
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)

Genes at Clinical Genomics Database

AARS2, ATXN1, C4A, C4B, CD2AP, CDSN, CFB, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, EDN1, EFHC1, ENPP1, EPM2A, ERMARD, ESR1, EYS, F13A1, FAM65B, FANCE, FIG4, FOXC1, GCNT2, GRIK2, GRM1, HLA-A, HLA-B, HSPA1L, ICK, IL17F, IMPG1, IYD, LAMA2, LAMA4, LCA5, LPA, LYRM4, MAK, MCM9, MOG, MUT, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PEX6, PGM3, PKHD1, PLA2G7, PLAGL1, PLG, PNPLA1, POLH, PRPH2, RIMS1, RIPPLY2, RMND1, RSPH4A, RSPH9, RUNX2, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SOBP, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBP, TBX18, TDP2, TNXB, TPMT, TRAF3IP2, TRDN, TULP1, VARS2,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ATXN1 Spinocerebellar ataxia 1
C4A Blood group, Chido/Rodgers system
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
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
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
EFHC1 Epilepsy, myoclonic juvenile
Epilepsy, juvenile absence, susceptibility to, 1
Epilepsy, severe intractable
ENPP1 Hypophosphatemic rickets, autosomal recessive 2
Arterial calcification, generalized, of infancy, 1
EPM2A Epilepsy, progressive myoclonic 2A (Lafora)
ERMARD Periventricular nodular heterotopia 6
ESR1 Estrogen resistance
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
FIG4 Amyotrophic lateral sclerosis 11
Charcot-Marie Tooth disease, autosomal recessive, type 4J
Polymicrogyria, bilateral occipital
Yunis-Varon syndrome
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
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
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HSPA1L Abacavir, susceptibility to toxicity with
ICK Endocrine-cerebroosteodysplasia
IL17F Candidiasis, familial, 6
IMPG1 Macular dystrophy, vitelliform, 4
IYD Thyroid dyshormonogenesis 4
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
MOG Narcolepsy 7
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NDUFAF4 Mitochondrial complex I deficiency
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NT5E Calcification of joints and arteries
PARK2 Parkinson disease 2, autosomal recessive juvenile
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PEX6 Heimler syndrome 2
PGM3 Immunodeficiency 23
PKHD1 Polycystic kidney disease, autosomal recessive
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PLAGL1 Diabetes mellitus, transient neonatal
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
RIPPLY2 Spondylocostal dysostosis, autosomal recessive 6
RMND1 Combined oxidative phosphorylation deficiency 11
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12
RUNX2 Cleidocranial dysplasia
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
SEC63 Polycystic liver disease
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SLC26A8 Spermatogenic failure 3
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
TAP2 Bare lymphocyte syndrome, type I
TAPBP Bare lymphocyte syndrome, type I
TBP Spinocerebellar ataxia 17
TBX18 Congenital anomalies of the kidney and urinary tract 2
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
TULP1 Leber congenital amaurosis 15
Retinitis pigmentosa 14
VARS2 Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 3168
Number of Genes: 520

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 gordonsepilepsy filtered 2487_pool 6 rs324136
dbSNP Clinvar 		44275011 24723.7 T C PASS 1/1 341 NON_SYNONYMOUS_CODING MODERATE None 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 gordonsepilepsy filtered 2487_pool 6 rs498512
dbSNP Clinvar 		44269193 10300.9 C T PASS 1/1 148 SYNONYMOUS_CODING LOW None 0.58267 0.58270 0.32101 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%
View gordonsepilepsy filtered 2487_pool 6 rs325008
dbSNP Clinvar 		44268371 16463.7 T C PASS 1/1 228 SYNONYMOUS_CODING LOW None 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 gordonsepilepsy filtered 2487_pool 6 rs2125739
dbSNP Clinvar 		43412865 6936.5 T C PASS 0/1 146 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20008 0.20010 0.27603 0.52 0.00 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 gordonsepilepsy filtered 2487_pool 6 rs72545970,rs4148252
dbSNP Clinvar 		30558477 8258.68 G GA PASS 1/1 54 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 gordonsepilepsy filtered 2487_pool 6 rs1475865
dbSNP Clinvar 		31657413 10256.7 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 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 gordonsepilepsy filtered 2487_pool 6 rs3800302
dbSNP Clinvar 		26597333 7049.17 A G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.70867 0.70870 0.35268 None None None None None None ABT1|0.032342215|68.44%
View gordonsepilepsy filtered 2487_pool 6 rs3800303
dbSNP Clinvar 		26598188 3122.5 A G PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.51617 0.51620 0.43918 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 gordonsepilepsy filtered 2487_pool 6 rs25683
dbSNP Clinvar 		160196343 9831.17 A G PASS 1/1 131 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.02 None None None None None None ACAT2|0.090493467|53.12%
View gordonsepilepsy filtered 2487_pool 6 rs3465
dbSNP Clinvar 		160198395 5197.92 G A PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.23522 0.23520 0.31955 None None None None None None ACAT2|0.090493467|53.12%

ACOT13
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 gordonsepilepsy filtered 2487_pool 6 rs143667676
dbSNP Clinvar 		24698187 4133.5 G T PASS 0/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00077 0.00 1.00 None None None None None None ACOT13|0.032154156|68.53%

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 gordonsepilepsy filtered 2487_pool 6 rs1800684
dbSNP Clinvar 		32151994 8974.69 A T PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.96426 0.96430 0.09633 None None None None None None AGER|0.358118947|23.58%

AGPAT4
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 gordonsepilepsy filtered 2487_pool 6 rs3734462
dbSNP Clinvar 		161557662 2950.69 G A PASS 0/1 191 SYNONYMOUS_CODING LOW None 0.13718 0.13720 0.14186 None None None None None None AGPAT4|0.05231474|61.98%
View gordonsepilepsy filtered 2487_pool 6 rs2277092
dbSNP Clinvar 		161575165 6214.7 T G PASS 0/1 169 None None None 0.04413 0.04413 0.08227 0.00 0.00 None None None None None None AGPAT4|0.05231474|61.98%

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 gordonsepilepsy filtered 2487_pool 6 rs2297970
dbSNP Clinvar 		106999822 818.17 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.19908 0.19910 0.25277 0.42 0.44 None None None None None None AIM1|0.106090951|49.97%
View gordonsepilepsy filtered 2487_pool 6 rs1799693
dbSNP Clinvar 		106992464 11576.7 A G PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.96885 0.96880 0.05505 None None None None None None AIM1|0.106090951|49.97%
View gordonsepilepsy filtered 2487_pool 6 rs11152999
dbSNP Clinvar 		106960447 2980.5 G A PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.25439 0.25440 0.13368 None None None None None None AIM1|0.106090951|49.97%
View gordonsepilepsy filtered 2487_pool 6 rs1159148
dbSNP Clinvar 		106967185 5418.69 A C PASS 0/1 377 NON_SYNONYMOUS_CODING MODERATE None 0.20647 0.20650 0.24273 0.24 0.00 None None None None None None AIM1|0.106090951|49.97%
View gordonsepilepsy filtered 2487_pool 6 rs783396
dbSNP Clinvar 		106987370 25086.7 A C PASS 1/1 278 NON_SYNONYMOUS_CODING MODERATE None 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 gordonsepilepsy filtered 2487_pool 6 rs71770197,rs141134529,rs568921203
dbSNP Clinvar 		109906329 273.61 GCTT G PASS 1/1 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.37201 0.37200 0.33319 None None None None None None AK9|0.032678932|68.3%
View gordonsepilepsy filtered 2487_pool 6 rs1406957
dbSNP Clinvar 		109954252 13819.7 C T PASS 1/1 202 SYNONYMOUS_CODING LOW None 0.65216 0.65220 0.45464 None None None None None None AK9|0.032678932|68.3%
View gordonsepilepsy filtered 2487_pool 6 rs2277114
dbSNP Clinvar 		109827716 7286.7 C T PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.38039 0.38040 0.35502 0.62 0.00 None None None None None None AK9|0.032678932|68.3%
View gordonsepilepsy filtered 2487_pool 6 rs72331392,rs560850105
dbSNP Clinvar 		109850199 3301.63 AAC A PASS 0/1 36 None None None 0.51038 0.51040 None None None None None None AK9|0.032678932|68.3%
View gordonsepilepsy filtered 2487_pool 6 rs10499052
dbSNP Clinvar 		109885475 2198.68 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.16154 0.16150 0.21857 0.00 1.00 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 gordonsepilepsy filtered 2487_pool 6 rs3823310
dbSNP Clinvar 		151674326 5795.92 A C PASS 0/1 227 NON_SYNONYMOUS_CODING MODERATE None 0.43890 0.43890 0.44749 0.44 0.01 None None None None None None AKAP12|0.001631589|92.22%
View gordonsepilepsy filtered 2487_pool 6 rs900654
dbSNP Clinvar 		151670897 6406.5 T C PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.71106 0.71110 0.21590 None None None None None None AKAP12|0.001631589|92.22%
View gordonsepilepsy filtered 2487_pool 6 rs3734799
dbSNP Clinvar 		151670172 3482.92 A C PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.35384 1.00 0.00 None None None None None None AKAP12|0.001631589|92.22%
View gordonsepilepsy filtered 2487_pool 6 rs10872670
dbSNP Clinvar 		151669875 2955.5 A G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.68670 0.68670 0.24320 1.00 0.00 None None None None None None AKAP12|0.001631589|92.22%
View gordonsepilepsy filtered 2487_pool 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar 		151674116 17016.5 T TGAG PASS 0/1 380 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70387 0.70390 0.22056 None None None None None None AKAP12|0.001631589|92.22%

AKAP7
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 gordonsepilepsy filtered 2487_pool 6 rs1190788
dbSNP Clinvar 		131520655 1842.69 G A PASS 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.29586 0.03 0.51 None None None None None None AKAP7|0.092108276|52.79%

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 gordonsepilepsy filtered 2487_pool 6 rs9353687
dbSNP Clinvar 		90338863 4243.7 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.16793 0.16790 0.18347 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View gordonsepilepsy filtered 2487_pool 6 rs3210511
dbSNP Clinvar 		90340276 10935.7 G A PASS 0/1 343 SYNONYMOUS_CODING LOW None 0.60084 0.60080 0.48581 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View gordonsepilepsy filtered 2487_pool 6 rs199519943
dbSNP Clinvar 		90276733 1326.69 G A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.00090 0.07 0.43 None None None None None None ANKRD6|0.151109383|42.82%
View gordonsepilepsy filtered 2487_pool 6 rs3748085
dbSNP Clinvar 		90315789 3667.48 A G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 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 gordonsepilepsy filtered 2487_pool 6 rs17292811
dbSNP Clinvar 		90333599 5950.69 A G PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.90415 0.90420 0.14826 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%

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 gordonsepilepsy filtered 2487_pool 6 rs2293242
dbSNP Clinvar 		34949607 24626.7 C T PASS 1/1 315 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%
View gordonsepilepsy filtered 2487_pool 6 rs2177382
dbSNP Clinvar 		35050506 10165.2 G A PASS 1/1 145 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.18430 None None None None None None ANKS1A|0.453129628|18.02%
View gordonsepilepsy filtered 2487_pool 6 rs62402705
dbSNP Clinvar 		34985558 2443.69 C G PASS 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.00639 0.00639 0.00500 0.05 0.04 None None None None None None ANKS1A|0.453129628|18.02%
View gordonsepilepsy filtered 2487_pool 6 rs820085
dbSNP Clinvar 		35027927 3244.95 T C PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.99042 0.99040 0.01299 1.00 0.00 None None None None None None ANKS1A|0.453129628|18.02%

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 gordonsepilepsy filtered 2487_pool 6 rs3752536
dbSNP Clinvar 		130031215 3879.01 T C PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 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 gordonsepilepsy filtered 2487_pool 6 rs2817041
dbSNP Clinvar 		35705892 5019.5 T C PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.75939 0.75940 0.20329 None None None None None None ARMC12|0.054383959|61.37%

ARMC2
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 gordonsepilepsy filtered 2487_pool 6 rs11153136
dbSNP Clinvar 		109233725 4460.5 T C PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.02207 None None None None None None ARMC2|0.059551834|60.01%
View gordonsepilepsy filtered 2487_pool 6 rs9386758
dbSNP Clinvar 		109197379 4288.5 T C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.08127 0.08127 0.01522 0.51 0.00 None None None None None None ARMC2|0.059551834|60.01%

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 gordonsepilepsy filtered 2487_pool 6 rs41288423
dbSNP Clinvar 		101166095 7547.5 G A PASS 0/1 235 SYNONYMOUS_CODING LOW None 0.45867 0.45870 0.48401 None None None None None None ASCC3|0.710572602|8.22%
View gordonsepilepsy filtered 2487_pool 6 rs239239
dbSNP Clinvar 		101094554 4330.5 A G PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.57129 0.57130 0.45087 None None None None None None ASCC3|0.710572602|8.22%
View gordonsepilepsy filtered 2487_pool 6 rs240780
dbSNP Clinvar 		100964147 6301.5 G C PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.76777 0.76780 0.31801 0.75 0.00 None None None None None None ASCC3|0.710572602|8.22%
View gordonsepilepsy filtered 2487_pool 6 rs9390698
dbSNP Clinvar 		101296389 5481.5 G A PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.35045 0.22 0.01 None None None None None None ASCC3|0.710572602|8.22%

ATF6B
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 gordonsepilepsy filtered 2487_pool 6 rs2228628
dbSNP Clinvar 		32088854 3601.52 G C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.17512 0.17510 0.21206 None None None None None None ATF6B|0.118552355|47.66%
View gordonsepilepsy filtered 2487_pool 6 rs147955878
dbSNP Clinvar 		32084337 3777.51 T A PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00515 0.00 1.00 None None None None None None ATF6B|0.118552355|47.66%

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 gordonsepilepsy filtered 2487_pool 6 rs16885
dbSNP Clinvar 		16306751 13090.9 G A PASS 0/1 320 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.12280 0.14416 0.17 0.93 5.32 0.38 0.93068 D None None None None ATXN1|0.832563526|5.05%
View gordonsepilepsy filtered 2487_pool 6 rs769091061,rs765686161
dbSNP Clinvar 		16327864 3044.49 G GTGC PASS 1/1 45 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%
View gordonsepilepsy filtered 2487_pool 6 rs179990
dbSNP Clinvar 		16327615 17964.7 A G PASS 1/1 209 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.29271 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 gordonsepilepsy filtered 2487_pool 6 rs1574490
dbSNP Clinvar 		71665986 3557.05 G A PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.53275 0.53270 0.47522 None None None None None None B3GAT2|0.224931204|33.88%

BACH2
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 gordonsepilepsy filtered 2487_pool 6 rs2236181
dbSNP Clinvar 		90661576 6163.5 T C PASS 0/1 191 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%
View gordonsepilepsy filtered 2487_pool 6 rs9451298
dbSNP Clinvar 		90660319 4803.51 T C PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.31050 0.31050 0.31293 None None None None None None BACH2|0.725202882|7.84%

BAG6
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 gordonsepilepsy filtered 2487_pool 6 rs1052486
dbSNP Clinvar 		31610686 5853.62 A G PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.50419 0.50420 0.43634 0.91 0.00 None None None None None None BAG6|0.203831216|36.26%

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 gordonsepilepsy filtered 2487_pool 6 rs913543
dbSNP Clinvar 		70071173 8903.92 G A PASS 0/1 405 SYNONYMOUS_CODING LOW None 0.48622 0.48620 0.36812 None None None None None None ADGRB3|0.918272143|3.02%
View gordonsepilepsy filtered 2487_pool 6 rs1932618
dbSNP Clinvar 		69666684 18079.7 A G PASS 1/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.90535 0.90540 0.11725 0.99 0.00 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 gordonsepilepsy filtered 2487_pool 6 rs2227925
dbSNP Clinvar 		33545340 2026.94 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.07608 0.07608 0.13503 None None None None None None BAK1|0.062715344|59.13%

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 gordonsepilepsy filtered 2487_pool 6 rs62431287
dbSNP Clinvar 		136590698 4024.72 C T PASS 0/1 387 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.72 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs1967446
dbSNP Clinvar 		136597288 16552.7 A C PASS 0/1 335 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.26 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs1967445
dbSNP Clinvar 		136597281 16196.7 A T PASS 0/1 340 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.94 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs1967444
dbSNP Clinvar 		136597262 11781.7 T C PASS 0/1 318 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs6940018
dbSNP Clinvar 		136599393 16823.7 G C PASS 0/1 404 NON_SYNONYMOUS_CODING MODERATE None 0.49820 0.49820 0.05 0.84 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs9942517
dbSNP Clinvar 		136599822 4408.72 C G PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.00000 0.00000 0.00 0.00 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs9942518
dbSNP Clinvar 		136599836 5249.72 G A PASS 0/1 108 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs9942519
dbSNP Clinvar 		136599842 5219.72 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs150873394
dbSNP Clinvar 		136599885 37.69 C A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs7381749
dbSNP Clinvar 		136594292 778.8 T C PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.49 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs62431288
dbSNP Clinvar 		136590712 2572.72 C T PASS 0/1 381 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs62431283
dbSNP Clinvar 		136582417 3725.76 G A PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.00 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs62431284
dbSNP Clinvar 		136582497 15374.7 G T PASS 0/1 413 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.61 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs78267720
dbSNP Clinvar 		136589448 3047.72 C A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.43 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs62431286
dbSNP Clinvar 		136590640 4308.72 A C PASS 0/1 292 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.50 None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs62431285
dbSNP Clinvar 		136590613 2560.5 T C PASS 0/1 236 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View gordonsepilepsy filtered 2487_pool 6 rs6919254
dbSNP Clinvar 		136599404 15463.7 T C PASS 0/1 407 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%

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 gordonsepilepsy filtered 2487_pool 6 rs3734444
dbSNP Clinvar 		55739553 11306.9 A G PASS 0/1 369 SYNONYMOUS_CODING LOW None 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 gordonsepilepsy filtered 2487_pool 6 rs111588693
dbSNP Clinvar 		7727271 775.2 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.33986 0.33990 0.21 0.00 2.40 0.65 0.97097 D None None None None BMP6|0.889563802|3.68%
View gordonsepilepsy filtered 2487_pool 6 rs17557
dbSNP Clinvar 		7862631 6129.7 G C PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.59764 0.59760 0.48239 None None None None None None BMP6|0.889563802|3.68%

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 gordonsepilepsy filtered 2487_pool 6 rs2071876
dbSNP Clinvar 		32948426 2393.5 C T PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.06050 0.06050 0.06339 None None None None None None BRD2|0.972652512|1.63%
View gordonsepilepsy filtered 2487_pool 6 rs516535
dbSNP Clinvar 		32942302 3609.17 G A PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.34246 None None None None None None BRD2|0.972652512|1.63%
View gordonsepilepsy filtered 2487_pool 6 rs15912
dbSNP Clinvar 		32944094 10334.5 G C PASS 0/1 360 SYNONYMOUS_CODING LOW None 0.04772 0.04772 0.05699 None None None None None None BRD2|0.972652512|1.63%

BTBD9
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 gordonsepilepsy filtered 2487_pool 6 rs41303370
dbSNP Clinvar 		38560449 2829.69 C T PASS 0/1 228 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00283 None None None None None None BTBD9|0.887289399|3.77%

BTN1A1
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 gordonsepilepsy filtered 2487_pool 6 rs3736781
dbSNP Clinvar 		26505362 4871.5 G A PASS 0/1 225 NON_SYNONYMOUS_CODING MODERATE None 0.56829 0.56830 0.48685 0.13 0.03 None None None None None None BTN1A1|0.010791735|80.28%
View gordonsepilepsy filtered 2487_pool 6 rs3736782
dbSNP Clinvar 		26505403 4546.5 C A PASS 0/1 214 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.48693 None None None None None None BTN1A1|0.010791735|80.28%
View gordonsepilepsy filtered 2487_pool 6 rs1321479
dbSNP Clinvar 		26501897 3587.5 T C PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.48414 None None None None None None BTN1A1|0.010791735|80.28%
View gordonsepilepsy filtered 2487_pool 6 rs9393728
dbSNP Clinvar 		26509330 3344.5 C G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.56889 0.56890 0.48778 0.37 0.00 None None None None None None BTN1A1|0.010791735|80.28%
View gordonsepilepsy filtered 2487_pool 6 rs35555795
dbSNP Clinvar 		26509382 1351.5 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.03814 0.03814 0.07492 0.15 0.01 None None None None None None BTN1A1|0.010791735|80.28%

BTN2A1
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 gordonsepilepsy filtered 2487_pool 6 rs13195402
dbSNP Clinvar 		26463575 6773.5 G T PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.02396 0.02396 0.06320 0.00 1.00 None None None None None None BTN2A1|0.002518088|89.63%
View gordonsepilepsy filtered 2487_pool 6 rs3734543
dbSNP Clinvar 		26468545 5874.5 G C PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.03794 0.03794 0.07566 0.16 0.09 None None None None None None BTN2A1|0.002518088|89.63%
View gordonsepilepsy filtered 2487_pool 6 rs13195401
dbSNP Clinvar 		26463574 6773.5 G T PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.02396 0.02396 0.06351 0.00 1.00 None None None None None None BTN2A1|0.002518088|89.63%
View gordonsepilepsy filtered 2487_pool 6 rs3734544
dbSNP Clinvar 		26468660 5796.5 G A PASS 0/1 216 SYNONYMOUS_CODING LOW None 0.16234 0.16230 0.18007 None None None None None None BTN2A1|0.002518088|89.63%
View gordonsepilepsy filtered 2487_pool 6 rs13195509
dbSNP Clinvar 		26463660 8804.5 G A PASS 0/1 332 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.07558 0.08 0.71 None None None None None None BTN2A1|0.002518088|89.63%
View gordonsepilepsy filtered 2487_pool 6 rs3734542
dbSNP Clinvar 		26468326 14433.5 G A PASS 0/1 392 NON_SYNONYMOUS_CODING MODERATE None 0.03794 0.03794 0.07573 0.47 0.01 None None None None None None BTN2A1|0.002518088|89.63%

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 gordonsepilepsy filtered 2487_pool 6 rs1614887
dbSNP Clinvar 		26393021 6415.5 G A PASS 0/1 177 SYNONYMOUS_CODING LOW None 0.57967 0.57970 0.35353 None None None None None None BTN2A2|0.003176243|88.35%
View gordonsepilepsy filtered 2487_pool 6 rs2072803
dbSNP Clinvar 		26392515 5342.5 G C PASS 0/1 178 None None None 0.08646 0.08646 0.00 None None None None None None BTN2A2|0.003176243|88.35%
View gordonsepilepsy filtered 2487_pool 6 rs2072802
dbSNP Clinvar 		26392934 4327.5 C T PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.01857 0.01857 0.01392 None None None None None None BTN2A2|0.003176243|88.35%

BTN3A1
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 gordonsepilepsy filtered 2487_pool 6 rs41266839
dbSNP Clinvar 		26409890 11435.5 G C PASS 0/1 298 NON_SYNONYMOUS_CODING MODERATE None 0.01817 0.01817 0.05997 0.34 0.00 None None None None None None BTN3A1|0.000649602|97.54%
View gordonsepilepsy filtered 2487_pool 6 rs3857550
dbSNP Clinvar 		26406255 1805.17 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None None None None None None None BTN3A1|0.000649602|97.54%

BTN3A2
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 gordonsepilepsy filtered 2487_pool 6 rs12174631
dbSNP Clinvar 		26373150 2155.5 C T PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.08107 0.08107 0.08412 None None None None None None BTN3A2|0.000374625|99.12%