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Genes:
AARS2, ABCF1, ABHD16A, ACAT2, ACOT13, ADGB, AGER, AHI1, AIM1, AK9, AKAP12, AL078585.1, AL583828.1, ALDH5A1, ALDH8A1, ANKRD6, ANKS1A, APOBEC2, ARHGAP18, ARID1B, ARMC12, ASCC3, ATAT1, ATXN1, BAG6, BAI3, BAK1, BCLAF1, BEND3, BMP5, BMP6, BRD2, BTN1A1, BTN2A2, BTN3A2, BTNL2, BYSL, C4A, C6orf1, C6orf10, C6orf100, C6orf120, C6orf141, C6orf15, C6orf164, C6orf195, C6orf222, C6orf47, C6orf48, CAGE1, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDKAL1, CDKN1A, CDYL, CENPQ, CENPW, CEP57L1, CFB, CLDN20, CLPSL1, CLPSL2, CNKSR3, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CTGF, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDR1, DDX39B, DDX43, DEF6, DNAH8, DOPEY1, DPCR1, DSE, DSP, DST, DUSP22, DYNLT1, EDN1, EEF1E1, EHMT2, ELOVL5, ENPP3, EPB41L2, EPHA7, EPM2A, ESR1, ETV7, EYS, F13A1, FAM120B, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FANCE, FAXC, FBXO30, FBXO5, FHL5, FLOT1, FNDC1, FOXF2, FOXP4, FOXQ1, FRMD1, FUCA2, FUT9, GABRR1, GABRR2, GCLC, GCNT2, GFRAL, GJB7, GJE1, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GPANK1, GPLD1, GPR110, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPX6, GRIK2, GRM4, GSTA1, GSTA2, GSTA5, GTF2H4, HCG27, HDGFL1, HEBP2, HECA, HFE, HINT3, HIST1H1C, HIST1H1D, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AD, HIST1H2BA, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H2BH, HIST1H2BK, HIST1H3C, HIST1H3I, HIST1H4B, HIST1H4C, HIST1H4G, HIST1H4H, 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, HS3ST5, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HUS1B, IBTK, IER3, IFNGR1, IGF2R, IL17F, IL20RA, IMPG1, IP6K3, IRAK1BP1, ITPR3, IYD, JARID2, KCNK16, KCNK17, KCNQ5, KDM1B, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1009, KIAA1244, KIAA1919, KIF13A, KIF25, KIF6, KLHDC3, KLHL31, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LRFN2, LRRC16A, LTA, LY6G6E, LY6G6F, LYRM2, LYRM4, MAK, MAN1A1, MANEA, MAP3K4, MAP7, MAPK13, MB21D1, MCCD1, MCHR2, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MEP1A, METTL24, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MOXD1, MRPL18, MRPS10, MSH5, MTHFD1L, MTRF1L, MUC21, MUC22, MUT, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAIN2, NKAPL, NOTCH4, NOX3, NQO2, NRM, NT5E, NUP153, OARD1, OFCC1, OLIG3, OOEP, OPRM1, OR10C1, OR12D1, OR12D2, OR12D3, OR2A4, OR2H2, OR2J2, OR2W1, OR5V1, PARK2, PDE10A, PERP, PGBD1, PGC, PGM3, PHACTR2, PHF1, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, PNRC1, POM121L2, POU3F2, POU5F1, PPARD, PPIL1, PPP1R14C, PPP1R3G, PPT2, PRDM1, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB1, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTK7, PTPRK, PXDC1, PXT1, QRSL1, RAB44, RAET1E, RAET1L, RANBP9, REV3L, RGL2, RIMS1, RIOK1, RIPK1, RNASET2, RNF217, ROS1, RP1-139D8.6, RPL7L1, RPP21, RPS6KA2, RREB1, RSPH3, RSPH4A, RSPO3, RTN4IP1, RUNX2, RXRB, SAMD3, SASH1, SCAND3, SCML4, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SESN1, SFT2D1, SGK1, SHPRH, SKIV2L, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B3, SLC44A4, SMAP1, SMOC2, SMPD2, SNAP91, SNRNP48, SNRPC, SNX14, SOBP, SOD2, SOGA3, SPATS1, SRPK1, SSR1, STK19, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR1, TAAR5, TAAR6, TAF8, TAGAP, TAP2, TAPBP, TBC1D22B, TBC1D32, TBCC, TBP, TBX18, TCF19, TCP10, TCP10L2, TCTE1, TDP2, TDRD6, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TMEM151B, TMEM200A, TMEM244, TNFAIP3, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TTK, TTLL2, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBE3D, UBR2, UFL1, UHRF1BP1, ULBP2, UNC5CL, USP45, USP49, UTRN, VARS, VARS2, VNN1, VNN2, VNN3, VTA1, WDR27, WDR46, WISP3, XPO5, ZBTB12, ZBTB2, ZBTB22, ZBTB9, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF76, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN31, ZSCAN9, ZUFSP,

Genes at Omim

AARS2, ACAT2, AHI1, ALDH5A1, ARID1B, ATXN1, BTNL2, C4A, CD2AP, CDKAL1, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, EDN1, ELOVL5, EPM2A, ESR1, EYS, F13A1, FAM65B, FANCE, GCLC, GCNT2, GMNN, GRIK2, HFE, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, IFNGR1, IGF2R, IL17F, IMPG1, ITPR3, IYD, KHDC3L, KIAA0319, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LTA, LYRM4, MAK, MCM9, MOG, MUT, MYB, MYO6, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, PDE10A, PGM3, PLA2G7, PLG, PNPLA1, PRPH2, RIMS1, RNASET2, RSPH3, RSPH4A, RTN4IP1, RUNX2, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A3, SLC17A5, SLC26A8, SMOC2, SNX14, SOBP, SOD2, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBP, TBX18, TDP2, THBS2, TNFAIP3, TNXB, TPMT, TRAF3IP2, TRDN, TULP1, VARS2, VNN1, WISP3,
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)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CDKAL1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
CFB ?Complement factor B deficiency, 615561 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL12A1 ?Ullrich congenital muscular dystrophy 2, 616470 (3)
Bethlem myopathy 2, 616471 (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)
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 ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
EDN1 Auriculocondylar syndrome 3, 615706 (3)
Question mark ears, isolated, 612798 (3)
{High density lipoprotein cholesterol level QTL 7} (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EPM2A Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ESR1 Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
{Breast cancer}, 114480 (1)
{HDL response to hormone replacement, augmented} (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (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)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FANCE Fanconi anemia, complementation group E, 600901 (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)
GMNN Meier-Gorlin syndrome 6, 616835 (3)
GRIK2 Mental retardation, autosomal recessive, 6, 611092 (3)
HFE Hemochromatosis, 235200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
HIVEP2 Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
{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)
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 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Pemphigoid, susceptibility to} (2)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IFNGR1 Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)
{H. pylori infection, susceptibility to}, 600263 (3)
{Hepatitis B virus infection, susceptibility to}, 610424 (3)
{Tuberculosis infection, protection against}, 607948 (3)
{Tuberculosis, susceptibility to}, 607948 (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)
KHDC3L Hydatidiform mole, recurrent, 2, 614293 (3)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5 Leber congenital amaurosis 5, 604537 (3)
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (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)
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)
NDUFAF4 Mitochondrial complex I deficiency, 252010 (3)
NFKBIL1 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2 {?Breast cancer susceptibility}, 114480 (1)
NT5E Calcification of joints and arteries, 211800 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PGM3 Immunodeficiency 23, 615816 (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)
PRPH2 Choriodal 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, 608133 (3)
Retinitis punctata albescens, 136880 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RSPH3 Ciliary dyskinesia, primary, 32, 616481 (3)
RSPH4A Ciliary dyskinesia, primary, 11, 612649 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (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)
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)
SLC17A3 [Uric acid concentration, serum, QTL4], 612671 (3)
{Gout susceptibility 4}, 612671 (3)
SLC17A5 Salla disease, 604369 (3)
Sialic acid storage disorder, infantile, 269920 (3)
SLC26A8 Spermatogenic failure 3, 606766 (3)
SMOC2 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
SNX14 Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (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 Sacral agenesis with vertebral anomalies, 615709 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
Wegener-like granulomatosis (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBP Spinocerebellar ataxia 17, 607136 (3)
{Parkinson disease, susceptibility to}, 168600 (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)
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAF3IP2 ?Candidiasis, familial, 8, 615527 (3)
{Psoriasis susceptibility 13}, 614070 (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)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VNN1 [High density lipoprotein cholesterol level QTL 8] (3)
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)

Genes at Clinical Genomics Database

AARS2, AHI1, ALDH5A1, ARID1B, ATXN1, C4A, CD2AP, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, EDN1, ELOVL5, EPM2A, ESR1, EYS, F13A1, FAM65B, FANCE, GCLC, GCNT2, GMNN, GRIK2, HFE, HLA-A, HLA-B, HSPA1L, IFNGR1, IL17F, IMPG1, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LYRM4, MAK, MCM9, MOG, MUT, MYO6, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PGM3, PKHD1, PLA2G7, PLG, PNPLA1, PRPH2, RIMS1, RNASET2, RSPH3, RSPH4A, RTN4IP1, RUNX2, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A5, SLC26A8, SMOC2, SNX14, SOBP, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBP, TBX18, TDP2, TNFAIP3, TNXB, TPMT, TRAF3IP2, TRDN, TULP1, VARS2, WISP3,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
AHI1 Joubert syndrome 3
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ARID1B Coffin-Siris syndrome 1
Mental retardation, autosomal dominant, 12
ATXN1 Spinocerebellar ataxia 1
C4A Blood group, Chido/Rodgers system
CD2AP Focal segmental glomerulosclerosis 3
CFB Complement factor B deficiency
Hemolytic uremic syndrome, atypical
COL10A1 Metaphyseal chondrodysplasia, Schmid type
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL12A1 Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
COL9A1 Stickler syndrome, type IV
CUL7 Yakut short stature syndrome
Three M syndrome 1
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DCDC2 Deafness, autosomal recessive 66
DSE Ehlers-Danlos syndrome, musculocontractural type 2
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DST Neuropathy, hereditary sensory and autonomic, type VI
EDN1 Auriculocondylar Syndrome 3
Dominant Isolated Question-Mark Ears
ELOVL5 Spinocerebellar ataxia 39
EPM2A Epilepsy, progressive myoclonic 2A (Lafora)
ESR1 Estrogen resistance
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
GCLC Gamma-glutamylcysteine synthetase deficiency
GCNT2 Cataract 13 with adult i phenotype
Adult i phenotype without cataract
Blood group, Ii
GMNN Meier-Gorlin syndrome 6
GRIK2 Mental retardation, autosomal recessive 6
HFE Hemochromatosis
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HSPA1L Abacavir, susceptibility to toxicity with
IFNGR1 Immunodeficiency 27A
Immunodeficiency 27B
IL17F Candidiasis, familial, 6
IMPG1 Macular dystrophy, vitelliform, 4
IYD Thyroid dyshormonogenesis 4
KHDC3L Hydatidiform mole, recurrent, 2
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMA4 Cardiomyopathy, dilated, 1JJ
LCA5 Leber congenital amaurosis 5
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
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
MYO6 Deafness, autosomal recessive 37
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 Infantile-onset dyskinesia
Striatal degeneration, autosomal dominant 2
PGM3 Immunodeficiency 23
PKHD1 Polycystic kidney disease, autosomal recessive
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PLG Plasminogen deficiency, type I
PNPLA1 Ichthyosis, congenital, autosomal recessive 10
PRPH2 Retinitis pigmentosa 7
Macula dystrophy, patterned 1
Macular dystrophy, vitelliform 3
Retinitis punctata albescens
Choriodal dystrophy, central areolar 2
RIMS1 Cone-rod dystrophy 7
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
RSPH3 Ciliary dyskinesia, primary, 32
RSPH4A Ciliary dyskinesia, primary, 11
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Cleidocranial dysplasia
SEC63 Polycystic liver disease
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SLC17A5 Sialuria, Finnish type (Salla disease)
Infantile sialic acid storage disorder
SLC26A8 Spermatogenic failure 3
SMOC2 Dentin dysplasia, type I
SNX14 Spinocerebellar ataxia, autosomal recessive 20
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
SYNE1 Spinocerebellar ataxia, autosomal recessive 8
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TPMT Thiopurine S-methyltransferase deficiency
TRAF3IP2 Candidiasis, familial 8
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TULP1 Retinitis pigmentosa 14
Leber congenital amaurosis 15
VARS2 Combined oxidative phosphorylation deficiency 20
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood
Spondyloepiphyseal dysplasia tarda with progressive arthropathy

Genes at HGMD

Summary

Number of Variants: 7718
Number of Genes: 527

Export to: CSV

AARS2

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 mm170241ct 6 rs498512
dbSNP
44269193 690.77 C T . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.58267 0.58270 0.32101 None None None None None None None
View mm170241ct 6 rs324136
dbSNP
44275011 1082.77 T C . 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88898 0.88900 0.11341 0.96 0.00 None None None None None None None
View mm170241ct 6 rs325008
dbSNP
44268371 1244.77 T C . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.86941 0.86940 0.12886 None None None None None None None

ABCF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs72545970,rs4148252
dbSNP
30558477 980.73 G GA . 1/1 26 None None None 0.71406 0.71410 0.30404 None None None None None None None

ABHD16A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs1475865
dbSNP
31657413 732.77 T C . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.81609 0.81610 0.27590 None None None None None None None

ACAT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs25683
dbSNP
160196343 4608.77 A G . 1/1 131 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36522 0.36520 0.45433 0.04 0.02 None None None None None None None
View mm170241ct 6 rs3465
dbSNP
160198395 3377.77 G A . 1/1 97 SYNONYMOUS_CODING LOW SILENT 0.23522 0.23520 0.31955 None None None None None None None

ACOT13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs7765904
dbSNP
24698215 4423.77 G A . 1/1 131 SYNONYMOUS_CODING LOW SILENT 0.14736 0.14740 0.22290 None None None None None None None

ADGB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs3747756
dbSNP
147049868 4190.77 G A . 1/1 127 SYNONYMOUS_CODING LOW SILENT 0.29792 0.29790 0.23544 None None None None None None None
View mm170241ct 6 rs259370
dbSNP
147136244 2050.77 A G . 0/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73143 0.73140 0.34626 1.00 0.00 None None None None None None None
View mm170241ct 6 rs1052444
dbSNP
147136212 1825.77 A T . 0/1 160 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40435 0.40440 0.28922 0.05 0.18 None None None None None None None

AGER

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs1800684
dbSNP
32151994 719.77 A T . 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.96426 0.96430 0.09633 None None None None None None None

AHI1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 . 135715984 1581.77 C G . 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.02 None None None None None None None

AIM1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs2297970
dbSNP
106999822 2928.77 G A . 0/1 177 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19908 0.19910 0.25277 0.42 0.44 None None None None None None None
View mm170241ct 6 rs1799693
dbSNP
106992464 1393.77 A G . 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.96885 0.96880 0.05505 None None None None None None None
View mm170241ct 6 rs783396
dbSNP
106987370 1560.77 A C . 0/1 149 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93590 0.93590 0.07135 0.14 0.01 None None None None None None None
View mm170241ct 6 rs1159148
dbSNP
106967185 3813.77 A C . 0/1 269 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20647 0.20650 0.24273 0.24 0.00 None None None None None None None

AK9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs71770197,rs141134529,rs568921203
dbSNP
109906329 968.73 GCTT G . 0/1 48 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.37201 0.37200 0.33319 None None None None None None None
View mm170241ct 6 rs1998813
dbSNP
109900765 4140.77 C A . 0/1 300 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04792 0.04792 0.03877 0.34 0.00 None None None None None None None
View mm170241ct 6 rs148271752
dbSNP
109849810 1720.73 C CT... . 0/1 86 None None None 0.05312 0.05312 None None None None None None None
View mm170241ct 6 rs72331392,rs560850105
dbSNP
109850199 1958.73 AAC A . 0/1 110 None None None 0.51038 0.51040 None None None None None None None
View mm170241ct 6 rs2277114
dbSNP
109827716 2604.77 C T . 0/1 177 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38039 0.38040 0.35502 0.62 0.00 None None None None None None None
View mm170241ct 6 rs1406957
dbSNP
109954252 2138.77 C T . 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.65216 0.65220 0.45464 None None None None None None None
View mm170241ct 6 rs56107923
dbSNP
109931580 1065.77 T C . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.05252 0.05252 0.04183 None None None None None None None

AKAP12

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 mm170241ct 6 rs3842128,rs113116275,rs34338625
dbSNP
151674116 10477.73 T TGAG . 1/1 212 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.70387 0.70390 0.22056 None None None None None None None
View mm170241ct 6 rs3823310
dbSNP
151674326 4335.77 A C . 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43890 0.43890 0.44749 0.44 0.01 None None None None None None None
View mm170241ct 6 rs3734799
dbSNP
151670172 1961.77 A C . 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.35384 1.00 0.00 None None None None None None None
View mm170241ct 6 rs900654
dbSNP
151670897 2035.77 T C . 1/1 61 SYNONYMOUS_CODING LOW SILENT 0.71106 0.71110 0.21590 None None None None None None None
View mm170241ct 6 rs2294792
dbSNP
151627034 1776.77 A G . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.23103 0.23100 0.34897 None None None None None None None
View mm170241ct 6 rs10872670
dbSNP
151669875 1134.77 A G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68670 0.68670 0.24320 1.00 0.00 None None None None None None None

AL078585.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs6937392
dbSNP
163612783 3204.83 C A . 1/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75779 0.75780 0.00 None None None None None None None
View mm170241ct 6 rs13195800
dbSNP
163587266 1307.77 C A . 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09046 0.09046 0.61 None None None None None None None
View mm170241ct 6 rs1124951
dbSNP
163587146 1349.77 C G . 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83307 0.83310 0.00 None None None None None None None

AL583828.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs766773
dbSNP
13470113 4923.77 A T . 1/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90655 0.90650 0.08629 0.00 None None None None None None None

ALDH5A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs2760118
dbSNP
24503590 1114.77 C T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31470 0.31470 0.37121 0.11 0.00 None None None None None None None

ALDH8A1

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs41286234
dbSNP
135239758 714.77 G C . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00599 0.00599 0.01184 0.15 0.01 None None None None None None None

ANKRD6

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs3748085
dbSNP
90315789 1880.77 A G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78175 0.78170 0.19835 1.00 0.00 None None None None None None None
View mm170241ct 6 rs17292811
dbSNP
90333599 496.77 A G . 1/1 16 SYNONYMOUS_CODING LOW SILENT 0.90415 0.90420 0.14826 None None None None None None None
View mm170241ct 6 rs9353687
dbSNP
90338863 1672.77 C T . 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.16793 0.16790 0.18347 None None None None None None None
View mm170241ct 6 rs3210511
dbSNP
90340276 1204.77 G A . 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.60084 0.60080 0.48581 None None None None None None None
View mm170241ct 6 rs6909915
dbSNP
90327873 401.77 G A . 0/1 40 None None None 0.70228 0.70230 None None None None None None None

ANKS1A

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 mm170241ct 6 rs820085
dbSNP
35027927 556.77 T C . 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99042 0.99040 0.01299 1.00 0.00 None None None None None None None
View mm170241ct 6 rs2293242
dbSNP
34949607 1356.77 C T . 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.55052 0.55050 0.32877 None None None None None None None
View mm170241ct 6 rs2177382
dbSNP
35050506 1091.77 G A . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.84425 0.84420 0.18430 None None None None None None None
View mm170241ct 6 rs78397895
dbSNP
34962193 1834.77 A G . 0/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00519 0.00519 0.00492 0.26 0.00 None None None None None None None

APOBEC2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs2076472
dbSNP
41029342 1070.77 T C . 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17732 0.17730 0.14801 0.11 0.00 None None None None None None None
View mm170241ct 6 rs2073014
dbSNP
41029109 943.77 T C . 0/1 78 SYNONYMOUS_CODING LOW SILENT 0.18431 0.18430 0.15839 None None None None None None None

ARHGAP18

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs3752536
dbSNP
130031215 250.8 T C . 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81270 0.81270 0.15731 1.00 0.00 None None None None None None None

ARID1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs113232635
dbSNP
157507698 405.77 G C . 0/1 43 None None None 0.03754 0.03754 0.00 None None None None None None None
View mm170241ct 6 rs780034760,rs587779748
dbSNP
157100005 645.73 CGGA C . 0/1 43 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.03501 None None None None None None None
View mm170241ct 6 rs113430057
dbSNP
157507504 244.77 C T . 0/1 26 None None None 0.07628 0.07628 0.00 0.00 None None None None None None None

ARMC12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs2817041
dbSNP
35705892 394.77 T C . 1/1 13 SYNONYMOUS_CODING LOW SILENT 0.75939 0.75940 0.20329 None None None None None None None

ASCC3

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 mm170241ct 6 rs239239
dbSNP
101094554 1065.77 A G . 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.57129 0.57130 0.45087 None None None None None None None
View mm170241ct 6 rs240780
dbSNP
100964147 2071.77 G C . 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76777 0.76780 0.31801 0.75 0.00 None None None None None None None
View mm170241ct 6 rs9390698
dbSNP
101296389 2232.77 G A . 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24541 0.24540 0.35045 0.22 0.01 None None None None None None None
View mm170241ct 6 rs41288423
dbSNP
101166095 2785.77 G A . 0/1 203 SYNONYMOUS_CODING LOW SILENT 0.45867 0.45870 0.48401 None None None None None None None

ATAT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs150614928
dbSNP
30610758 75.78 G T . 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01438 0.01438 0.01307 0.18 0.47 None None None None None None None

ATXN1

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 mm170241ct 6 rs179990
dbSNP
16327615 1509.77 A G . 1/1 53 SYNONYMOUS_CODING LOW SILENT 0.00120 0.00120 0.29271 None None None None None None None
View mm170241ct 6 rs2075974
dbSNP
16327330 1211.77 T C . 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.36921 0.36920 0.28095 None None None None None None None

BAG6

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 mm170241ct 6 rs1052486
dbSNP
31610686 426.77 A G . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50419 0.50420 0.43634 0.91 0.00 None None None None None None None

BAI3

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 mm170241ct 6 rs913543
dbSNP
70071173 5231.77 G A . 0/1 350 SYNONYMOUS_CODING LOW SILENT 0.48622 0.48620 0.36812 None None None None None None None
View mm170241ct 6 rs1932618
dbSNP
69666684 1848.77 A G . 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90535 0.90540 0.11725 0.99 0.00 None None None None None None None
View mm170241ct 6 rs2296974
dbSNP
70064187 3551.77 G A . 0/1 235 SYNONYMOUS_CODING LOW SILENT 0.18051 0.18050 0.21805 None None None None None None None

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 mm170241ct 6 rs561276
dbSNP
33543116 169.77 C T . 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.03854 0.03854 0.04152 None None None None None None None

BCLAF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs9942519
dbSNP
136599842 1017.77 G A . 0/1 119 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs62431283
dbSNP
136582417 1128.77 G A . 0/1 234 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.00 None None None None None None None
View mm170241ct 6 rs62431284
dbSNP
136582497 4047.77 G T . 0/1 361 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.61 None None None None None None None
View mm170241ct 6 rs77081633
dbSNP
136589425 579.77 G T . 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00240 0.00240 0.16 0.80 None None None None None None None
View mm170241ct 6 rs78267720
dbSNP
136589448 564.77 C A . 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.43 None None None None None None None
View mm170241ct 6 rs62431285
dbSNP
136590613 772.77 T C . 0/1 172 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs62431286
dbSNP
136590640 1391.77 A C . 0/1 225 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.50 None None None None None None None
View mm170241ct 6 rs62431287
dbSNP
136590698 1744.77 C T . 0/1 289 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.72 None None None None None None None
View mm170241ct 6 rs62431288
dbSNP
136590712 1464.77 C T . 0/1 290 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs73558557
dbSNP
136593183 381.77 G C . 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.40 None None None None None None None
View mm170241ct 6 rs7381749
dbSNP
136594292 606.77 T C . 0/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35 0.49 None None None None None None None
View mm170241ct 6 rs7762367
dbSNP
136597004 419.77 A G . 0/1 135 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs1967444
dbSNP
136597262 5572.77 T C . 0/1 511 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs1967445
dbSNP
136597281 5885.77 A T . 0/1 520 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.94 None None None None None None None
View mm170241ct 6 rs1967446
dbSNP
136597288 6284.77 A C . 0/1 522 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.26 None None None None None None None
View mm170241ct 6 rs6940018
dbSNP
136599393 5838.77 G C . 0/1 430 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49820 0.49820 0.05 0.84 None None None None None None None
View mm170241ct 6 rs6919254
dbSNP
136599404 5040.77 T C . 0/1 425 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs9942517
dbSNP
136599822 1160.77 C G . 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00000 0.00000 0.00 0.00 None None None None None None None
View mm170241ct 6 rs9942518
dbSNP
136599836 932.77 G A . 0/1 107 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BEND3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs3814072
dbSNP
107391213 102.77 C T . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.06869 0.06869 0.08004 None None None None None None None

BMP5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs3734444
dbSNP
55739553 4939.77 A G . 0/1 324 SYNONYMOUS_CODING LOW SILENT 0.43510 0.43510 0.49054 None None None None None None None

BMP6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs111588693
dbSNP
7727271 177.77 G A . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33986 0.33990 0.21 0.00 None None None None None None T
View mm170241ct 6 rs17557
dbSNP
7862631 297.77 G C . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.59764 0.59760 0.48239 None None None None None None None

BRD2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs34530779
dbSNP
32946029 875.77 G A . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00639 0.00639 0.00687 0.50 0.01 None None None None None None None
View mm170241ct 6 rs516535
dbSNP
32942302 1948.77 G A . 1/1 56 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.34246 None None None None None None None
View mm170241ct 6 rs206781
dbSNP
32946133 211.77 T C . 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.26418 0.26420 0.31472 None None None None None None None
View mm170241ct 6 rs11908
dbSNP
32944746 922.77 G A . 0/1 59 None None None 0.26338 0.26340 0.29082 None None None None None None None

BTN1A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs115774646
dbSNP
26509392 357.77 G A . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01298 0.01298 0.00878 0.05 0.22 None None None None None None None

BTN2A2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs1614887
dbSNP
26393021 1972.77 G A . 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.57967 0.57970 0.35353 None None None None None None None

BTN3A2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs77887107,rs28717012
dbSNP
26368938 237.77 C T . 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 6 rs9379860
dbSNP
26370605 1154.77 T C . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.35044 0.35040 0.40527 None None None None None None None
View mm170241ct 6 rs9379862
dbSNP
26370707 1008.77 T C . 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.23602 0.23600 0.26657 None None None None None None None

BTNL2

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 mm170241ct 6 rs41535850
dbSNP
32362639 2204.77 G A . 0/1 129 SYNONYMOUS_CODING LOW SILENT 0.16394 0.16390 0.13778 None None None None None None None
View mm170241ct 6 rs34940131
dbSNP
32361749 897.77 G C . 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11362 0.11360 0.03 0.32 None None None None None None None
View mm170241ct 6 rs34507608
dbSNP
32361752 864.77 C T . 0/1 79 SYNONYMOUS_CODING LOW SILENT 0.11362 0.11360 None None None None None None None
View mm170241ct 6 rs35624343
dbSNP
32361762 1191.77 G A . 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16294 0.16290 0.37 0.00 None None None None None None None