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+ Genes 513

Genes:
AARS2, ABCC10, ABCF1, ABHD16A, ACAT2, ACOT13, ADGB, AGER, AGPAT4, AHI1, AIG1, AIM1, AK9, AKAP12, AL078585.1, AL583828.1, ANKRD6, ANKS1A, APOBEC2, ARHGAP18, ARID1B, ARMC12, ASCC3, ATF6B, ATXN1, BACH2, BAG6, BAI3, BAK1, BCLAF1, BEND3, BMP5, BMP6, BRD2, BRPF3, BTN1A1, BTN2A2, BTN3A3, BTNL2, C4B, C6ORF165, C6orf1, C6orf10, C6orf120, C6orf132, C6orf141, C6orf15, C6orf164, C6orf195, C6orf201, C6orf222, C6orf223, C6orf229, C6orf25, C6orf47, C6orf89, CAP2, CAPN11, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CD83, CDC5L, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CEP85L, CFB, CLDN20, CLPSL1, CLPSL2, CNKSR3, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRISP3, CTGF, CUL7, CUL9, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDR1, DDX39B, DEF6, DHX16, DNAH8, DPCR1, DSE, DSP, DST, DTNBP1, DUSP22, DXO, ECI2, ECT2L, EDN1, EEF1A1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL5, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ESR1, EYA4, EYS, F13A1, FAM120B, FAM135A, FAM217A, FAM26D, FAM26F, FAM46A, FAM65B, FAM83B, FANCE, FAXC, FBXO5, FGD2, FHL5, FIG4, FKBPL, FNDC1, FOXC1, FOXF2, FOXO3, FOXQ1, FRK, FRMD1, FUCA2, FUT9, GABRR1, GABRR2, GCLC, GCNT2, GFRAL, GINM1, GJB7, GJE1, GLP1R, GLTSCR1L, GLYATL3, GMDS, GNL1, GPANK1, GPLD1, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPSM3, GSTA2, GSTA5, GTF2H4, GTPBP2, GUCA1B, HBS1L, HCG27, HCRTR2, HECA, HINT3, HIST1H1T, HIST1H2AC, HIST1H2BC, HIST1H3H, HIST1H4C, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HMGN4, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HUS1B, IER3, IGF2R, IL17F, IL20RA, IMPG1, IP6K3, IRAK1BP1, ITPR3, IYD, JARID2, KATNA1, KCNK16, KCNK17, KCNQ5, KDM1B, KHDRBS2, KIAA0319, KIAA0408, KIAA1244, KIAA1919, KIF13A, KIF6, KIFC1, KLC4, KLHL31, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LPA, LRFN2, LRP11, LRRC1, LRRC16A, LTA, LY6G5B, LY6G6C, LY6G6F, MAK, MAN1A1, MAP3K4, MAP7, MAPK13, MAS1, MB21D1, MBOAT1, MCCD1, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, MEP1A, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOCS1, MOG, MOXD1, MRPL14, MRPL18, MRS2, MTCH1, MTHFD1L, MTRF1L, MUC21, MUC22, MUT, MYB, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, NUP43, OFCC1, OOEP, OPRM1, OR12D1, OR12D2, OR12D3, OR14J1, OR2J1, OR2J2, OR2J3, OR5V1, PACSIN1, PAQR8, PCMT1, PDE10A, PERP, PEX6, PGC, PHACTR2, PHF1, PHIP, PI16, PIM1, PKHD1, PLA2G7, PLEKHG1, PLG, PNPLA1, POLH, POLR1C, POM121L2, POU3F2, POU5F1, PPARD, PPIL1, PPP1R11, PPP1R14C, PPP1R3G, PPT2, PRDM1, PREP, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB1, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTP4A1, PTPRK, PXDC1, QRSL1, RAB44, RAET1E, RAET1G, RAET1L, REPS1, REV3L, RFPL4B, RGS17, RIMS1, RING1, RIOK1, RIPK1, RNASET2, RNF217, RNF39, RNF5, RNF8, ROS1, RP1-139D8.6, RPL7L1, RPP21, RPS6KA2, RREB1, RRP36, RSPH3, RSPO3, RXRB, SASH1, SCML4, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SFTA2, SHPRH, SIRT5, SKIV2L, SLC17A4, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC44A4, SMAP1, SMLR1, SMPD2, SMPDL3A, SNAP91, SNRNP48, SOBP, SOGA3, SPATS1, SRPK1, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR1, TAAR5, TAF8, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TBX18, TCF19, TCP10, TCP10L2, TCTE1, TCTE3, TDP2, TDRD6, TFAP2B, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM244, TNFAIP3, TNXB, TPMT, TRAF3IP2, TRDN, TREM1, TREML4, TRERF1, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TSPYL1, TSPYL4, TTBK1, TTK, TTLL2, TUBB2A, TUBB2B, TUBE1, TULP4, UBR2, UFL1, UNC5CL, USP45, USP49, UTRN, VARS, VARS2, VEGFA, VNN1, VNN2, VNN3, VWA7, WASF1, WDR27, WDR46, WRNIP1, WTAP, XPO5, ZBTB2, ZBTB22, ZBTB9, ZDHHC14, ZFAND3, ZNF184, ZNF292, ZNF318, ZNF391, ZNF76, ZNRD1, ZSCAN9,

+ Genes associated with diseases 115

Genes at Omim

AARS2, ACAT2, AHI1, ARID1B, ATXN1, BTNL2, C4B, CD2AP, CDSN, CFB, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, DTNBP1, EDN1, EFHC1, ELOVL5, EPM2A, ESR1, EYA4, EYS, F13A1, FANCE, FIG4, FOXC1, GCLC, GCNT2, GTPBP2, GUCA1B, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, IGF2R, IL17F, IMPG1, ITPR3, IYD, KCNQ5, LAMA2, LAMA4, LCA5, LPA, LTA, MAK, MCM9, MOCS1, MOG, MUT, MYB, MYO6, NCR3, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PDE10A, PEX6, PHIP, PLA2G7, PLG, PNPLA1, POLH, POLR1C, PRPH2, PSMB9, REPS1, RIMS1, RIPK1, RNASET2, RSPH3, SASH1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SLC44A4, SOBP, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBC1D7, TBP, TBX18, TDP2, TFAP2B, THBS2, TNFAIP3, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TUBB2B, VARS, VARS2, VNN1,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
AHI1 Joubert syndrome 3, 608629 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (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)
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)
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)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (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)
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)
EYA4 Deafness, autosomal dominant 10, 601316 (3)
?Cardiomyopathy, dilated, 1J, 605362 (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)
GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
GUCA1B Retinitis pigmentosa 48, 613827 (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)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (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)
MAK Retinitis pigmentosa 62, 614181 (3)
MCM9 Ovarian dysgenesis 4, 616185 (3)
MOCS1 Molybdenum cofactor deficiency A, 252150 (3)
MOG ?Narcolepsy 7, 614250 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
MYB {T-cell acute lymphoblastic leukemia} (3)
MYO6 Deafness, autosomal dominant 22, 606346 (3)
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)
Deafness, autosomal recessive 37, 607821 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (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)
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)
POLR1C Leukodystrophy, hypomyelinating, 11, 616494 (3)
Treacher Collins syndrome 3, 248390 (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)
REPS1 ?Neurodegeneration with brain iron accumulation 7, 617916 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RSPH3 Ciliary dyskinesia, primary, 32, 616481 (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)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC26A8 Spermatogenic failure 3, 606766 (3)
SLC44A4 ?Deafness, autosomal dominant 72, 617606 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (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)
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (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)
TFAP2B Char syndrome, 169100 (3)
Patent ductus arteriosus 2, 617035 (3)
THBS2 {Lumbar disc herniation, susceptibility to}, 603932 (3)
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like, 616744 (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)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (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, AHI1, ARID1B, ATXN1, C4B, CD2AP, CDSN, CFB, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, DTNBP1, EDN1, EFHC1, ELOVL5, EPM2A, ESR1, EYA4, EYS, F13A1, FAM65B, FANCE, FIG4, FOXC1, GCLC, GCNT2, GUCA1B, HLA-A, HLA-B, HSPA1L, IL17F, IMPG1, IYD, LAMA2, LAMA4, LCA5, LPA, MAK, MCM9, MOCS1, MOG, MUT, MYO6, NDUFAF4, NHLRC1, NT5E, PDE10A, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, POLH, POLR1C, PRPH2, RIMS1, RNASET2, RSPH3, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SOBP, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBC1D7, TBP, TBX18, TDP2, TFAP2B, TNFAIP3, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TUBB2B, VARS2,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
AHI1 Joubert syndrome 3
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
ATXN1 Spinocerebellar ataxia 1
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
DTNBP1 Hermansky-Pudlak syndrome 7
EDN1 Dominant Isolated Question-Mark Ears
Auriculocondylar Syndrome 3
EFHC1 Epilepsy, myoclonic juvenile
Epilepsy, juvenile absence, susceptibility to, 1
Epilepsy, severe intractable
ELOVL5 Spinocerebellar ataxia 39
EPM2A Epilepsy, progressive myoclonic 2A (Lafora)
ESR1 Estrogen resistance
EYA4 Cardiomyopathy, dilated, 1J
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
GCLC Gamma-glutamylcysteine synthetase deficiency
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GUCA1B Retinitis pigmentosa 48
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
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
LAMA4 Cardiomyopathy, dilated, 1JJ
LCA5 Leber congenital amaurosis 5
LPA Lipoprotein A deficiency, congenital
MAK Retinitis pigmentosa 62
MCM9 Ovarian dysgenesis 4
MOCS1 Molybdenum cofactor deficiency, type A
MOG Narcolepsy 7
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
POLR1C Treacher Collins syndrome 3
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
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
RSPH3 Ciliary dyskinesia, primary, 32
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
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive
TBP Spinocerebellar ataxia 17
TBX18 Congenital anomalies of the kidney and urinary tract 2
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TFAP2B Char syndrome
Patent ductus arteriosus, familial, nonsyndromic
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like
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
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB2B Polymicrogyria, asymmetric
VARS2 Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 9006
Number of Genes: 513

Export to: CSV

AARS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs324136
dbSNP Clinvar 		44275011 3564.77 T C . 1/1 112 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 mm171122md 6 rs325008
dbSNP Clinvar 		44268371 2312.77 T C . 1/1 75 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%
View mm171122md 6 rs34530313
dbSNP Clinvar 		44273412 541.77 C T . 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.00998 0.00998 0.00946 0.46 0.00 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
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs2277122
dbSNP Clinvar 		43406501 1279.77 C T . 0/1 96 SYNONYMOUS_CODING LOW None 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 mm171122md 6 rs72545970,rs4148252
dbSNP Clinvar 		30558477 912.73 G GA . 1/1 23 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 mm171122md 6 rs1475865
dbSNP Clinvar 		31657413 2865.77 T C . 1/1 81 SYNONYMOUS_CODING LOW None 0.81609 0.81610 0.27590 None None None None None None ABHD16A|0.218787308|34.5%
View mm171122md 6 rs10573
dbSNP Clinvar 		31655438 1578.77 G A . 0/1 100 SYNONYMOUS_CODING LOW None 0.10124 0.10120 0.09644 None None None None None None ABHD16A|0.218787308|34.5%

ACAT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs3464
dbSNP Clinvar 		160198359 449.77 C T . 0/1 38 SYNONYMOUS_CODING LOW None 0.26118 0.26120 0.17992 None None None None None None ACAT2|0.090493467|53.12%

ACOT13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs7765904
dbSNP Clinvar 		24698215 1155.77 G A . 0/1 96 SYNONYMOUS_CODING LOW None 0.14736 0.14740 0.22290 None None None None None None ACOT13|0.032154156|68.53%

ADGB
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 mm171122md 6 rs1052444
dbSNP Clinvar 		147136212 1078.77 A T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.28922 0.05 0.99 None None None None None None ADGB|0.008962502|81.7%
View mm171122md 6 rs9647637
dbSNP Clinvar 		147067093 703.77 C T . 0/1 59 SYNONYMOUS_CODING LOW None 0.16054 0.16050 0.21485 None None None None None None ADGB|0.008962502|81.7%
View mm171122md 6 rs259370
dbSNP Clinvar 		147136244 927.77 A G . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.73143 0.73140 0.34626 1.00 0.00 None None None None None None ADGB|0.008962502|81.7%
View mm171122md 6 rs259391
dbSNP Clinvar 		147106841 528.77 A G . 0/1 67 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45749 None None None None None None ADGB|0.008962502|81.7%

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 mm171122md 6 rs1800684
dbSNP Clinvar 		32151994 1084.77 A T . 1/1 30 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 mm171122md 6 rs118155311
dbSNP Clinvar 		161565180 770.77 G A . 0/1 88 None None None 0.03275 0.03275 0.02442 0.00 None None None None None None AGPAT4|0.05231474|61.98%

AHI1
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 mm171122md 6 rs2273761
dbSNP Clinvar 		135754208 541.77 A G . 0/1 62 SYNONYMOUS_CODING LOW None 0.03494 0.03494 0.02536 None None None None None None AHI1|0.23811055|32.57%
View mm171122md 6 rs13312995
dbSNP Clinvar 		135751024 612.77 G A . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.02008 0.00 1.00 None None None None None None AHI1|0.23811055|32.57%

AIG1
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 mm171122md 6 rs1053192
dbSNP Clinvar 		143382110 524.77 T C . 0/1 50 SYNONYMOUS_CODING LOW None 0.30831 0.30830 0.16054 None None None None None None AIG1|0.320528247|26.11%

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 mm171122md 6 rs11152999
dbSNP Clinvar 		106960447 1647.77 G A . 0/1 131 SYNONYMOUS_CODING LOW None 0.25439 0.25440 0.13368 None None None None None None AIM1|0.106090951|49.97%
View mm171122md 6 rs3747787
dbSNP Clinvar 		106967778 984.77 T C . 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.17412 0.17410 0.21813 0.15 0.00 None None None None None None AIM1|0.106090951|49.97%
View mm171122md 6 rs1799693
dbSNP Clinvar 		106992464 3147.77 A G . 1/1 91 SYNONYMOUS_CODING LOW None 0.96885 0.96880 0.05505 None None None None None None AIM1|0.106090951|49.97%
View mm171122md 6 rs783396
dbSNP Clinvar 		106987370 2257.77 A C . 1/1 65 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 mm171122md 6 rs72331392,rs560850105
dbSNP Clinvar 		109850199 1030.73 AAC A . 0/1 64 None None None 0.51038 0.51040 None None None None None None AK9|0.032678932|68.3%
View mm171122md 6 rs10499052
dbSNP Clinvar 		109885475 322.77 G A . 0/1 28 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%
View mm171122md 6 rs2277114
dbSNP Clinvar 		109827716 1150.77 C T . 0/1 81 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 mm171122md 6 rs1406957
dbSNP Clinvar 		109954252 516.77 C T . 0/1 46 SYNONYMOUS_CODING LOW None 0.65216 0.65220 0.45464 None None None None None None AK9|0.032678932|68.3%
View mm171122md 6 rs71770197,rs141134529,rs568921203
dbSNP Clinvar 		109906329 570.73 GCTT G . 0/1 41 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.37201 0.37200 0.33319 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 mm171122md 6 rs3823310
dbSNP Clinvar 		151674326 704.77 A C . 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.43890 0.43890 0.44749 0.44 0.00 None None None None None None AKAP12|0.001631589|92.22%
View mm171122md 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar 		151674116 1421.73 T TGAG . 0/1 67 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70387 0.70390 0.22056 None None None None None None AKAP12|0.001631589|92.22%
View mm171122md 6 rs900654
dbSNP Clinvar 		151670897 1004.77 T C . 0/1 98 SYNONYMOUS_CODING LOW None 0.71106 0.71110 0.21590 None None None None None None AKAP12|0.001631589|92.22%
View mm171122md 6 rs2294792
dbSNP Clinvar 		151627034 371.77 A G . 0/1 25 SYNONYMOUS_CODING LOW None 0.23103 0.23100 0.34897 None None None None None None AKAP12|0.001631589|92.22%
View mm171122md 6 rs3734799
dbSNP Clinvar 		151670172 1421.77 A C . 0/1 105 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 mm171122md 6 rs10872670
dbSNP Clinvar 		151669875 339.77 A G . 0/1 22 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%

AL078585.1
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 mm171122md 6 rs6937392
dbSNP Clinvar 		163612783 2301.77 C A . 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.75779 0.75780 0.00 None None None None None None PACRG|0.635061961|10.62%
View mm171122md 6 rs1124951
dbSNP Clinvar 		163587146 2155.77 C G . 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.83307 0.83310 0.00 None None None None None None PACRG|0.635061961|10.62%

AL583828.1
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 mm171122md 6 rs766773
dbSNP Clinvar 		13470113 1822.77 A T . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.90655 0.90650 0.08629 0.00 None None None None None None GFOD1|0.361383282|23.35%

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 mm171122md 6 rs3210511
dbSNP Clinvar 		90340276 2998.77 G A . 1/1 88 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 mm171122md 6 rs9353687
dbSNP Clinvar 		90338863 411.77 C T . 0/1 34 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 mm171122md 6 rs6909915
dbSNP Clinvar 		90327873 1667.77 G A . 1/1 48 None None None 0.70228 0.70230 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View mm171122md 6 rs17292811
dbSNP Clinvar 		90333599 728.77 A G . 1/1 23 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%
View mm171122md 6 rs3748085
dbSNP Clinvar 		90315789 2222.77 A G . 1/1 69 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%

ANKS1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs2177382
dbSNP Clinvar 		35050506 2436.77 G A . 1/1 74 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.18430 None None None None None None ANKS1A|0.453129628|18.02%
View mm171122md 6 rs2293242
dbSNP Clinvar 		34949607 4713.77 C T . 1/1 144 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%
View mm171122md 6 rs820085
dbSNP Clinvar 		35027927 1986.77 T C . 1/1 59 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%

APOBEC2
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 mm171122md 6 rs41273358
dbSNP Clinvar 		41021108 415.77 G A . 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00579 0.00579 0.01100 0.15 0.00 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%

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 mm171122md 6 rs3752536
dbSNP Clinvar 		130031215 2197.77 T C . 1/1 65 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%

ARID1B
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 mm171122md 6 rs3734441
dbSNP Clinvar 		157405930 2717.77 G A . 1/1 90 SYNONYMOUS_CODING LOW None 0.49521 0.49520 0.47263 None None None None None None ARID1B|0.540737445|14.17%
View mm171122md 6 rs113430057
dbSNP Clinvar 		157507504 778.77 C T . 0/1 63 None None None 0.07628 0.07628 0.00 0.00 None None None None None None ARID1B|0.540737445|14.17%
View mm171122md 6 rs114201726
dbSNP Clinvar 		157454209 302.77 C T . 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.00784 0.44 0.01 None None None None None None ARID1B|0.540737445|14.17%
View mm171122md 6 rs113232635
dbSNP Clinvar 		157507698 718.77 G C . 0/1 67 None None None 0.03754 0.03754 0.00 None None None None None None ARID1B|0.540737445|14.17%

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 mm171122md 6 rs2817041
dbSNP Clinvar 		35705892 1690.77 T C . 1/1 57 SYNONYMOUS_CODING LOW None 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 mm171122md 6 rs9390698
dbSNP Clinvar 		101296389 918.77 G A . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.35045 0.22 0.00 None None None None None None ASCC3|0.710572602|8.22%
View mm171122md 6 rs239239
dbSNP Clinvar 		101094554 746.77 A G . 0/1 47 SYNONYMOUS_CODING LOW None 0.57129 0.57130 0.45087 None None None None None None ASCC3|0.710572602|8.22%
View mm171122md 6 rs240780
dbSNP Clinvar 		100964147 786.77 G C . 0/1 41 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 mm171122md 6 rs41288423
dbSNP Clinvar 		101166095 865.77 G A . 0/1 73 SYNONYMOUS_CODING LOW None 0.45867 0.45870 0.48401 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 mm171122md 6 rs2228628
dbSNP Clinvar 		32088854 887.77 G C . 0/1 61 SYNONYMOUS_CODING LOW None 0.17512 0.17510 0.21206 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 mm171122md 6 rs2075974
dbSNP Clinvar 		16327330 2088.77 T C . 0/1 166 SYNONYMOUS_CODING LOW None 0.36921 0.36920 0.28095 None None None None None None ATXN1|0.832563526|5.05%
View mm171122md 6 rs179990
dbSNP Clinvar 		16327615 5345.77 A G . 1/1 164 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.29271 None None None None None None ATXN1|0.832563526|5.05%
View mm171122md 6 rs3817753
dbSNP Clinvar 		16327903 105.77 C A . 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.00 None None None None None None ATXN1|0.832563526|5.05%
View mm171122md 6 rs11969612
dbSNP Clinvar 		16327915 225.77 A C . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.23 None None None None None None ATXN1|0.832563526|5.05%

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 mm171122md 6 rs2236181
dbSNP Clinvar 		90661576 580.77 T C . 0/1 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%
View mm171122md 6 rs9451298
dbSNP Clinvar 		90660319 1870.77 T C . 0/1 167 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 mm171122md 6 rs1052486
dbSNP Clinvar 		31610686 2022.77 A G . 0/1 120 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 mm171122md 6 rs2296974
dbSNP Clinvar 		70064187 832.77 G A . 0/1 72 SYNONYMOUS_CODING LOW None 0.18051 0.18050 0.21805 None None None None None None ADGRB3|0.918272143|3.02%
View mm171122md 6 rs701655
dbSNP Clinvar 		69942506 735.77 G A . 0/1 72 None None None 0.06969 0.06969 None None None None None None ADGRB3|0.918272143|3.02%
View mm171122md 6 rs1932618
dbSNP Clinvar 		69666684 991.77 A G . 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs2227925
dbSNP Clinvar 		33545340 663.77 G A . 0/1 36 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs62431287
dbSNP Clinvar 		136590698 357.77 C T . 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.83 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs62431286
dbSNP Clinvar 		136590640 366.77 A C . 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs1967446
dbSNP Clinvar 		136597288 1463.77 A C . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.26 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs62431285
dbSNP Clinvar 		136590613 110.77 T C . 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs78267720
dbSNP Clinvar 		136589448 17.84 C A LowQual 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.77 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs6940018
dbSNP Clinvar 		136599393 4765.77 G C . 0/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.49820 0.49820 0.05 0.82 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs62431284
dbSNP Clinvar 		136582497 673.77 G T . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs62431283
dbSNP Clinvar 		136582417 12.05 G A LowQual 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs62431288
dbSNP Clinvar 		136590712 293.77 C T . 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs6919254
dbSNP Clinvar 		136599404 3991.77 T C . 0/1 280 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs9942517
dbSNP Clinvar 		136599822 1137.77 C G . 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00000 0.00000 0.00 0.99 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs9942518
dbSNP Clinvar 		136599836 1152.77 G A . 0/1 103 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs73558557
dbSNP Clinvar 		136593183 101.77 G C . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.67 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs9942519
dbSNP Clinvar 		136599842 1209.77 G A . 0/1 107 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs7381749
dbSNP Clinvar 		136594292 90.77 T C . 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.02 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs1967445
dbSNP Clinvar 		136597281 1368.77 A T . 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.39 None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs7762367
dbSNP Clinvar 		136597004 99.77 A G . 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View mm171122md 6 rs1967444
dbSNP Clinvar 		136597262 1320.77 T C . 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%

BEND3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs3814073
dbSNP Clinvar 		107391396 1693.77 G A . 0/1 119 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.16154 None None None None None None BEND3|0.218793148|34.49%

BMP5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs3734444
dbSNP Clinvar 		55739553 2090.77 A G . 1/1 63 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs111588693
dbSNP Clinvar 		7727271 324.77 G A . 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.33986 0.33990 0.21 0.00 None None None None None None BMP6|0.889563802|3.68%
View mm171122md 6 rs17557
dbSNP Clinvar 		7862631 990.77 G C . 0/1 71 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs516535
dbSNP Clinvar 		32942302 2004.77 G A . 1/1 60 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.34246 None None None None None None BRD2|0.972652512|1.63%
View mm171122md 6 rs11908
dbSNP Clinvar 		32944746 842.77 G A . 1/1 25 None None None 0.26338 0.26340 0.29082 None None None None None None BRD2|0.972652512|1.63%
View mm171122md 6 rs206781
dbSNP Clinvar 		32946133 1704.77 T C . 1/1 54 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.31472 None None None None None None BRD2|0.972652512|1.63%

BRPF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs45504893
dbSNP Clinvar 		36168628 1101.77 A G . 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.04732 0.04732 0.05405 0.28 0.00 None None None None None None BRPF3|0.316454475|26.34%

BTN1A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs1321479
dbSNP Clinvar 		26501897 1036.77 T C . 0/1 82 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.48414 None None None None None None BTN1A1|0.010791735|80.28%
View mm171122md 6 rs3736781
dbSNP Clinvar 		26505362 1315.77 G A . 0/1 95 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 mm171122md 6 rs3736782
dbSNP Clinvar 		26505403 978.77 C A . 0/1 83 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.48693 None None None None None None BTN1A1|0.010791735|80.28%
View mm171122md 6 rs9393728
dbSNP Clinvar 		26509330 940.77 C G . 0/1 72 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%

BTN2A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs1614887
dbSNP Clinvar 		26393021 2078.77 G A . 0/1 150 SYNONYMOUS_CODING LOW None 0.57967 0.57970 0.35353 None None None None None None BTN2A2|0.003176243|88.35%

BTN3A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs138065289
dbSNP Clinvar 		26446011 1918.77 G A . 0/1 121 STOP_GAINED HIGH None 0.00379 0.00379 0.00415 None None None None None None BTN3A3|0.000381223|99.07%

BTNL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm171122md 6 rs143211074
dbSNP Clinvar 		32372791 1700.77 C T . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.00439 0.00439 0.00616 0.02 0.15 None None None None None None BTNL2|0.00846386|82.19%