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Genes:
AARS2, ABCC10, ABT1, ADGB, AHI1, AIG1, AIM1, AK9, AKAP12, AKAP7, AKIRIN2, AL078585.1, AL583828.1, ALDH5A1, ALDH8A1, ANKRD6, ANKRD66, ANKS1A, ARHGAP18, ARMC12, ARMC2, ASCC3, ATXN1, B3GAT2, BAI3, BCLAF1, BMP5, BMP6, BPHL, BTN1A1, BTN2A1, BTN2A2, BVES, C6ORF50, C6orf1, C6orf118, C6orf120, C6orf132, C6orf141, C6orf163, C6orf164, C6orf201, C6orf211, C6orf222, C6orf229, C6orf52, C6orf57, C6orf89, CAP2, CAPN11, CCDC170, CCDC28A, CCND3, CCR6, CD109, CD164, CD2AP, CDC5L, CDKAL1, CDKN1A, CENPQ, CEP57L1, CEP85L, CITED2, CLDN20, CLIC5, CLPS, CLPSL2, CMTR1, CNKSR3, CNPY3, COL10A1, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX6A1P2, CPNE5, CRIP3, CRISP2, CRISP3, CTGF, CUL7, CUL9, CYP39A1, DAAM2, DACT2, DCBLD1, DCDC2, DDO, DEF6, DLK2, DNAH8, DPPA5, DSE, DSP, DST, DUSP22, ECI2, ECT2L, EDN1, EFHC1, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ESR1, ETV7, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM184A, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FANCE, FAXC, FBXO30, FBXO5, FGD2, FKBP5, FNDC1, FOXF2, FOXP4, FOXQ1, FRK, FRMD1, FUCA2, GABRR1, GABRR2, GCNT2, GCNT6, GFRAL, GINM1, GJA10, GJB7, GJE1, GLO1, GLP1R, GMDS, GMNN, GMPR, GPLD1, GPR110, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GRIK2, GRM1, GSTA2, GSTA5, GTPBP2, GUCA1B, HACE1, HBS1L, HCRTR2, HDAC2, HDGFL1, HECA, HINT3, HIST1H1B, HIST1H1C, HIST1H1T, HIST1H2AB, HIST1H2BA, HIST1H3C, HIST1H4C, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HMGA1, HMGN4, HSP90AB1, HUS1B, ICK, IFNGR1, IGF2R, IL17A, IL20RA, IL22RA2, IMPG1, IP6K3, IRAK1BP1, ITPR3, IYD, KATNA1, KCNK16, KCNK17, KCNK5, KCTD20, KDM1B, KHDRBS2, KIAA0319, KIAA0408, KIAA1009, KIAA1244, KIAA1586, KIF13A, KIF25, KIF6, KLC4, KLHL31, KLHL32, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LPA, LRFN2, LRRC1, LRRC16A, LYRM4, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAPK13, MB21D1, MCM9, MCUR1, MDGA1, MDN1, ME1, MEP1A, METTL24, MICAL1, MLIP, MLLT4, MLN, MMS22L, MOXD1, MRAP2, MRPL14, MRPS10, MTFR2, MTHFD1L, MTRF1L, MUT, MYLIP, MYLK4, NCOA7, NCR2, NDUFAF4, NEDD9, NHLRC1, NHSL1, NKAIN2, NKAPL, NOL7, NOX3, NQO2, NT5E, NUP153, NUP43, OGFRL1, OOEP, OPRM1, OR2B2, OR2J2, ORC3, PAK1IP1, PAQR8, PARK2, PCMT1, PDCD2, PDE10A, PDE7B, PEX6, PGBD1, PGC, PGM3, PHACTR2, PHF1, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, POLH, POM121L2, POPDC3, POU3F2, PPARD, PPP1R3G, PRDM1, PRDM13, PREP, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRSS35, PSMG4, PSORS1C1, PTCHD4, PTCRA, PTK7, PTPRK, PXDC1, PXT1, QRSL1, RAB23, RAB44, RAET1E, RAET1G, RAET1L, RANBP9, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIMS1, RIOK1, RIPK1, RIPPLY2, RMND1, RNASET2, RNF217, RNF8, ROS1, RP1-139D8.6, RP11-257K9.8, RPL7L1, RPP40, RPS6KA2, RREB1, RRP36, RSPH3, RSPH4A, RSPO3, RTN4IP1, SASH1, SCML4, SDIM1, SEC63, SENP6, SERAC1, SFT2D1, SHPRH, SIM1, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B2, SLC35B3, SMPD2, SNAP91, SNRNP48, SNRPC, SOBP, SOD2, SOGA3, SPATS1, SPDEF, SRPK1, SSR1, SUMO4, SYCP2L, SYNE1, SYNJ2, SYTL3, TAAR5, TAAR9, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TCP10, TCP10L2, TCTE1, TDP2, TDRD6, TEAD3, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM151B, TMEM170B, TMEM200A, TMEM217, TMEM242, TMEM244, TNFAIP3, TPMT, TRAF3IP2, TRAPPC3L, TRDN, TREM1, TREM2, TREML2, TREML4, TRERF1, TSPYL1, TSPYL4, TTBK1, TTK, TTLL2, TUBB2A, TULP1, TULP4, TXLNB, TXNDC5, UBE2J1, UBR2, UHRF1BP1, ULBP2, ULBP3, UNC93A, USP45, USP49, UST, UTRN, VEGFA, VGLL2, VNN1, VNN2, VNN3, WDR27, WISP3, WRNIP1, XPO5, YIPF3, ZBTB24, ZC3H12D, ZKSCAN3, ZNF292, ZNF318, ZNF322, ZNF451, ZSCAN12, ZSCAN23, ZSCAN31, ZUFSP,

Genes at Omim

AARS2, AHI1, ALDH5A1, ATXN1, BVES, CD164, CD2AP, CITED2, CLIC5, CNPY3, COL10A1, COL12A1, COL9A1, CUL7, DCDC2, DSE, DSP, DST, EDN1, EFHC1, ELOVL4, ELOVL5, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FANCE, FKBP5, GCNT2, GMNN, GRIK2, GRM1, GTPBP2, GUCA1B, HACE1, HIVEP2, HLA-A, HMGA1, ICK, IFNGR1, IGF2R, IMPG1, ITPR3, IYD, LAMA2, LAMA4, LCA5, LPA, LYRM4, MAK, MCM9, MRAP2, MUT, NDUFAF4, NHLRC1, NQO2, NT5E, PDE10A, PEX6, PGM3, PHIP, PLA2G7, PLG, PNPLA1, POLH, PRPH2, RAB23, RARS2, REPS1, RFX6, RIMS1, RIPK1, RIPPLY2, RMND1, RNASET2, RSPH3, RSPH4A, RTN4IP1, SASH1, SEC63, SERAC1, SIM1, SLC17A3, SLC26A8, SOBP, SOD2, SUMO4, SYNE1, TBC1D7, TBP, TDP2, THBS2, TNFAIP3, TPMT, TRAF3IP2, TRDN, TREM2, TSPYL1, TUBB2A, TULP1, VNN1, WISP3, ZBTB24,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
AHI1 Joubert syndrome 3, 608629 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BVES ?Cardiac arrhythmia with increased serum creatine kinase, 616812 (3)
CD164 ?Deafness, autosomal dominant 66, 616969 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CITED2 Atrial septal defect 8, 614433 (3)
Ventricular septal defect 2, 614431 (3)
CLIC5 ?Deafness, autosomal recessive 103, 616042 (3)
CNPY3 Epileptic encephalopathy, early infantile, 60, 617929 (3)
COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500 (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)
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)
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)
ELOVL4 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)
Spinocerebellar ataxia 34, 133190 (3)
Stargardt disease 3, 600110 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (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)
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)
FKBP5 {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (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)
GRM1 Spinocerebellar ataxia 44, 617691 (3)
Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
GUCA1B Retinitis pigmentosa 48, 613827 (3)
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
HIVEP2 Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
ICK Endocrine-cerebroosteodysplasia, 612651 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)
IFNGR1 {H. pylori infection, susceptibility to}, 600263 (3)
{Hepatitis B virus infection, susceptibility to}, 610424 (3)
Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)
{Tuberculosis infection, protection against}, 607948 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
IGF2R Hepatocellular carcinoma, somatic, 114550 (3)
IMPG1 Macular dystrophy, vitelliform, 4, 616151 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
IYD Thyroid dyshormonogenesis 4, 274800 (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)
LYRM4 ?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MCM9 Ovarian dysgenesis 4, 616185 (3)
MRAP2 {?Obesity, susceptibility to, BMIQ18}, 615457 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2 {?Breast cancer susceptibility}, 114480 (1)
NT5E Calcification of joints and arteries, 211800 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
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)
RAB23 Carpenter syndrome, 201000 (3)
RARS2 Pontocerebellar hypoplasia, type 6, 611523 (3)
REPS1 ?Neurodegeneration with brain iron accumulation 7, 617916 (3)
RFX6 Mitchell-Riley syndrome, 615710 (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)
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)
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)
SIM1 Obesity, severe, 601665 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SLC26A8 Spermatogenic failure 3, 606766 (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)
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
THBS2 {Lumbar disc herniation, susceptibility to}, 603932 (3)
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like, 616744 (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)
TREM2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TULP1 Leber congenital amaurosis 15, 613843 (3)
Retinitis pigmentosa 14, 600132 (3)
VNN1 [High density lipoprotein cholesterol level QTL 8] (3)
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3)

Genes at Clinical Genomics Database

AARS2, AHI1, ALDH5A1, ATXN1, BVES, CD2AP, CITED2, CLIC5, COL10A1, COL12A1, COL9A1, CUL7, DCDC2, DSE, DSP, DST, EDN1, EFHC1, ELOVL4, ELOVL5, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FAM65B, FANCE, GCNT2, GMNN, GRIK2, GRM1, GUCA1B, HACE1, HLA-A, ICK, IFNGR1, IMPG1, IYD, LAMA2, LAMA4, LCA5, LPA, LYRM4, MAK, MCM9, MUT, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PEX6, PGM3, PKHD1, PLA2G7, PLG, PNPLA1, POLH, PRPH2, RAB23, RARS2, RFX6, RIMS1, RIPPLY2, RMND1, RNASET2, RSPH3, RSPH4A, RTN4IP1, SEC63, SERAC1, SLC26A8, SOBP, SYNE1, TBC1D7, TBP, TDP2, TNFAIP3, TPMT, TRAF3IP2, TRDN, TREM2, TSPYL1, TUBB2A, TULP1, WISP3, ZBTB24,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
AHI1 Joubert syndrome 3
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ATXN1 Spinocerebellar ataxia 1
BVES Muscular dystrophy, limb-girdle, type 2X
CD2AP Focal segmental glomerulosclerosis 3
CITED2 Atrial septal defect 8
Ventricular septal defect 2
CLIC5 Deafness, autosomal recessive 103
COL10A1 Metaphyseal chondrodysplasia, Schmid type
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL9A1 Stickler syndrome, type IV
CUL7 Three M syndrome 1
Yakut short stature syndrome
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
ELOVL4 Icthyosis, spastic quadriplegia, and mental retardation
Spinocerebellar ataxia 34
Startgardt disease 3
ELOVL5 Spinocerebellar ataxia 39
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
EYA4 Cardiomyopathy, dilated, 1J
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GMNN Meier-Gorlin syndrome 6
GRIK2 Mental retardation, autosomal recessive 6
GRM1 Spinocerebellar ataxia, autosomal recessive 13
GUCA1B Retinitis pigmentosa 48
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures
HLA-A Drug-induced toxicity, susceptibility to
ICK Endocrine-cerebroosteodysplasia
IFNGR1 Immunodeficiency 27B
Immunodeficiency 27A
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
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
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
RAB23 Carpenter syndrome 1
RARS2 Pontocerebellar hypoplasia, type 6
RFX6 Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
Martinez-Frias syndrome
Mitchell-Riley syndrome
RIMS1 Cone-rod dystrophy 7
RIPPLY2 Spondylocostal dysostosis, autosomal recessive 6
RMND1 Combined oxidative phosphorylation deficiency 11
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
SEC63 Polycystic liver disease
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
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
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive
TBP Spinocerebellar ataxia 17
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like
TPMT Thiopurine S-methyltransferase deficiency
TRAF3IP2 Candidiasis, familial 8
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TREM2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease
Early-onset dementia without bone cysts
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
TULP1 Leber congenital amaurosis 15
Retinitis pigmentosa 14
WISP3 Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Arthropathy, progressive pseudorheumatoid, of childhood
ZBTB24 Immunodeficiency-Centromeric Instability-Facial Anomalies 2

Genes at HGMD

Summary

Number of Variants: 2346
Number of Genes: 472

Export to: CSV

AARS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs324136
dbSNP Clinvar
44275011 2039.77 T C PASS 0/1 197 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 33011510240923_annotated 6 rs325008
dbSNP Clinvar
44268371 1431.77 T C PASS 0/1 143 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 33011510240923_annotated 6 rs498512
dbSNP Clinvar
44269193 369.77 C T PASS 0/1 41 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%

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 33011510240923_annotated 6 rs2125739
dbSNP Clinvar
43412865 918.77 T C PASS 0/1 74 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%
View 33011510240923_annotated 6 rs2125740
dbSNP Clinvar
43412935 1794.77 T C PASS 0/1 176 SYNONYMOUS_CODING LOW None 0.05411 0.05411 0.06535 None None None None None None ABCC10|0.125839341|46.49%
View 33011510240923_annotated 6 rs138248684
dbSNP Clinvar
43401090 1515.77 C T PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00054 0.00 1.00 None None None None None None ABCC10|0.125839341|46.49%

ABT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs3800303
dbSNP Clinvar
26598188 5162.77 A G PASS 1/1 174 SYNONYMOUS_CODING LOW None 0.51617 0.51620 0.43918 None None None None None None ABT1|0.032342215|68.44%
View 33011510240923_annotated 6 rs3800302
dbSNP Clinvar
26597333 1942.77 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.70867 0.70870 0.35268 None None None None None None ABT1|0.032342215|68.44%
View 33011510240923_annotated 6 rs61748270
dbSNP Clinvar
26598572 3611.77 C T PASS 0/1 293 NON_SYNONYMOUS_CODING MODERATE None 0.00998 0.00998 0.00969 0.28 0.89 None None None None None None ABT1|0.032342215|68.44%

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 33011510240923_annotated 6 rs3747756
dbSNP Clinvar
147049868 3607.77 G A PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.29792 0.29790 0.23544 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs9497573
dbSNP Clinvar
146921484 1581.77 C T PASS 0/1 143 None None None 0.01637 0.01637 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs59739522
dbSNP Clinvar
147103175 471.77 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.03235 0.03235 0.02913 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs7747387
dbSNP Clinvar
146975339 1361.77 C T PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.03814 0.03814 0.03263 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs145664320
dbSNP Clinvar
146993412 1276.77 A G PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.00329 0.11 0.91 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs73571870
dbSNP Clinvar
146993573 140.77 G C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.03175 0.03175 0.02979 0.30 0.04 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs61748896
dbSNP Clinvar
147038089 2121.77 G T PASS 0/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.08486 0.08486 0.07709 1.00 0.00 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs6902602
dbSNP Clinvar
147091728 2555.77 C T PASS 0/1 229 None None None 0.05431 0.05431 0.00 0.00 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs259370
dbSNP Clinvar
147136244 1631.77 A G PASS 1/1 57 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 33011510240923_annotated 6 rs61730248
dbSNP Clinvar
147128553 433.77 G A PASS 0/1 35 None None None 0.02576 0.02576 0.15 0.60 None None None None None None ADGB|0.008962502|81.7%
View 33011510240923_annotated 6 rs259391
dbSNP Clinvar
147106841 2510.77 A G PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45749 None None None None None None ADGB|0.008962502|81.7%

AHI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs905262279
dbSNP Clinvar
135769555 3054.73 TAA T PASS 0/1 177 FRAME_SHIFT HIGH None 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 33011510240923_annotated 6 rs1053192
dbSNP Clinvar
143382110 1285.77 T C PASS 0/1 94 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 33011510240923_annotated 6 rs1799693
dbSNP Clinvar
106992464 2630.77 A G PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.96885 0.96880 0.05505 None None None None None None AIM1|0.106090951|49.97%
View 33011510240923_annotated 6 rs1159148
dbSNP Clinvar
106967185 2676.77 A C PASS 0/1 218 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 33011510240923_annotated 6 rs3747787
dbSNP Clinvar
106967778 3176.77 T C PASS 0/1 293 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 33011510240923_annotated 6 rs2297970
dbSNP Clinvar
106999822 214.77 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.19908 0.19910 0.25277 0.42 0.36 None None None None None None AIM1|0.106090951|49.97%
View 33011510240923_annotated 6 rs783396
dbSNP Clinvar
106987370 7829.77 A C PASS 1/1 253 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs12175588
dbSNP Clinvar
109894773 707.77 T A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.24421 0.24420 0.20105 0.23 0.00 None None None None None None AK9|0.032678932|68.3%
View 33011510240923_annotated 6 rs9374111
dbSNP Clinvar
109954518 285.77 T C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.24441 0.24440 0.19495 None None None None None None AK9|0.032678932|68.3%
View 33011510240923_annotated 6 rs1406957
dbSNP Clinvar
109954252 1471.77 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.65216 0.65220 0.45464 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 33011510240923_annotated 6 rs3734797
dbSNP Clinvar
151672812 815.77 G A PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.05751 0.05751 0.02061 0.12 0.02 None None None None None None AKAP12|0.001631589|92.22%
View 33011510240923_annotated 6 rs10872670
dbSNP Clinvar
151669875 1118.77 A G PASS 0/1 79 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 33011510240923_annotated 6 rs79254001
dbSNP Clinvar
151674196 5370.77 C G PASS 0/1 416 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00146 0.01 0.16 None None None None None None AKAP12|0.001631589|92.22%
View 33011510240923_annotated 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar
151674116 7807.73 T TGAG PASS 0/1 419 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 33011510240923_annotated 6 rs900654
dbSNP Clinvar
151670897 1407.77 T C PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.71106 0.71110 0.21590 None None None None None None AKAP12|0.001631589|92.22%
View 33011510240923_annotated 6 rs41289369
dbSNP Clinvar
151671182 558.77 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.06350 0.06350 0.02591 None None None None None None AKAP12|0.001631589|92.22%
View 33011510240923_annotated 6 rs3734795
dbSNP Clinvar
151674593 2490.77 G T PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.15036 0.15040 0.10910 0.27 0.01 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 33011510240923_annotated 6 rs1190788
dbSNP Clinvar
131520655 3760.77 G A PASS 0/1 301 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.29586 0.03 0.23 None None None None None None AKAP7|0.092108276|52.79%

AKIRIN2

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 33011510240923_annotated 6 rs63749091
dbSNP Clinvar
88385579 985.77 G A PASS 1/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03275 0.03275 0.03591 None None None None None None AKIRIN2|0.457030399|17.81%

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 33011510240923_annotated 6 rs6937392
dbSNP Clinvar
163612783 5369.77 C A PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.75779 0.75780 0.00 None None None None None None PACRG|0.635061961|10.62%
View 33011510240923_annotated 6 rs1124951
dbSNP Clinvar
163587146 3639.77 C G PASS 1/1 123 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 33011510240923_annotated 6 rs6938119
dbSNP Clinvar
13470415 3476.77 G A PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.06330 0.06330 0.06751 0.00 None None None None None None GFOD1|0.361383282|23.35%

ALDH5A1

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 33011510240923_annotated 6 rs2760118
dbSNP Clinvar
24503590 4783.77 C T PASS 1/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.31470 0.31470 0.37121 0.11 0.00 None None None None None None ALDH5A1|0.036674729|66.91%

ALDH8A1

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 33011510240923_annotated 6 rs56825243
dbSNP Clinvar
135250236 1112.77 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.00638 None None None None None None ALDH8A1|0.103938562|50.43%

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 33011510240923_annotated 6 rs3748085
dbSNP Clinvar
90315789 4224.77 A G PASS 1/1 125 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 33011510240923_annotated 6 rs6909915
dbSNP Clinvar
90327873 2213.77 G A PASS 1/1 72 None None None 0.70228 0.70230 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View 33011510240923_annotated 6 rs3210511
dbSNP Clinvar
90340276 4741.77 G A PASS 1/1 153 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%

ANKRD66

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs9472839
dbSNP Clinvar
46726500 68.77 C A PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.10104 0.10100 0.13119 0.28 0.05 None None None None None None ANKRD66|0.026719506|71.02%

ANKS1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs2293242
dbSNP Clinvar
34949607 4143.77 C T PASS 0/1 339 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%
View 33011510240923_annotated 6 rs820085
dbSNP Clinvar
35027927 1479.77 T C PASS 1/1 51 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%
View 33011510240923_annotated 6 rs2177382
dbSNP Clinvar
35050506 3672.77 G A PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.18430 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 33011510240923_annotated 6 rs144039256
dbSNP Clinvar
129955199 1058.77 G C PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00015 1.00 0.00 None None None None None None ARHGAP18|0.168100451|40.56%
View 33011510240923_annotated 6 rs3752536
dbSNP Clinvar
130031215 536.77 T C PASS 0/1 64 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 33011510240923_annotated 6 rs78738184
dbSNP Clinvar
35716449 4174.77 C T PASS 0/1 366 SYNONYMOUS_CODING LOW None 0.00399 0.00399 0.00261 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 33011510240923_annotated 6 rs113651966
dbSNP Clinvar
109274527 1282.77 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.03694 0.03694 0.02834 1.00 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 33011510240923_annotated 6 rs35661276
dbSNP Clinvar
101110242 3973.77 G A PASS 0/1 371 SYNONYMOUS_CODING LOW None 0.00679 0.00679 0.00623 None None None None None None ASCC3|0.710572602|8.22%
View 33011510240923_annotated 6 rs240780
dbSNP Clinvar
100964147 5187.77 G C PASS 1/1 159 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 33011510240923_annotated 6 rs41288423
dbSNP Clinvar
101166095 6164.77 G A PASS 1/1 205 SYNONYMOUS_CODING LOW None 0.45867 0.45870 0.48401 None None None None None None ASCC3|0.710572602|8.22%
View 33011510240923_annotated 6 rs240768
dbSNP Clinvar
100957344 1117.77 T C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.13638 0.13640 0.09673 0.18 0.59 None None None None None None ASCC3|0.710572602|8.22%

ATXN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs179990
dbSNP Clinvar
16327615 2226.77 A G PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.29271 None None None None None None ATXN1|0.832563526|5.05%
View 33011510240923_annotated 6 rs2072737
dbSNP Clinvar
16306866 5833.77 G A PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.12001 0.12000 0.04160 None None None None None None ATXN1|0.832563526|5.05%
View 33011510240923_annotated 6 rs2075974
dbSNP Clinvar
16327330 2696.77 T C PASS 0/1 222 SYNONYMOUS_CODING LOW None 0.36921 0.36920 0.28095 None None None None None None ATXN1|0.832563526|5.05%

B3GAT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs1574490
dbSNP Clinvar
71665986 821.77 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.53275 0.53270 0.47522 None None None None None None B3GAT2|0.224931204|33.88%

BAI3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs1932618
dbSNP Clinvar
69666684 3304.77 A G PASS 1/1 107 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%

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 33011510240923_annotated 6 rs9942517
dbSNP Clinvar
136599822 682.77 C G PASS 0/1 60 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 33011510240923_annotated 6 rs6919254
dbSNP Clinvar
136599404 1915.77 T C PASS 0/1 490 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs9942518
dbSNP Clinvar
136599836 76.77 G A SNP_QC 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs9942519
dbSNP Clinvar
136599842 910.77 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs7762367
dbSNP Clinvar
136597004 508.77 A G PASS 0/1 162 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs778718614
dbSNP Clinvar
136599910 417.73 T TG... PASS 0/1 59 CODON_INSERTION MODERATE None None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs6940018
dbSNP Clinvar
136599393 6274.77 G C PASS 0/1 530 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 33011510240923_annotated 6 rs62431288
dbSNP Clinvar
136590712 1175.77 C T PASS 0/1 123 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs6939752
dbSNP Clinvar
136599458 932.77 C T PASS 0/1 248 SYNONYMOUS_CODING LOW None 0.02922 None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs1967446
dbSNP Clinvar
136597288 664.77 A C PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.26 None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs7381749
dbSNP Clinvar
136594292 200.77 T C SNP_QC 0/1 270 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.02 None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs62431287
dbSNP Clinvar
136590698 451.77 C T PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.83 None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs1967445
dbSNP Clinvar
136597281 615.77 A T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.39 None None None None None None BCLAF1|0.862204176|4.44%
View 33011510240923_annotated 6 rs1967444
dbSNP Clinvar
136597262 814.77 T C PASS 0/1 76 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 33011510240923_annotated 6 rs141227178
dbSNP Clinvar
55625291 1279.77 G A PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00338 None None None None None None BMP5|0.960503202|1.95%
View 33011510240923_annotated 6 rs3734444
dbSNP Clinvar
55739553 6214.77 A G PASS 1/1 199 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 33011510240923_annotated 6 rs17557
dbSNP Clinvar
7862631 949.77 G C PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.59764 0.59760 0.48239 None None None None None None BMP6|0.889563802|3.68%
View 33011510240923_annotated 6 rs17558
dbSNP Clinvar
7862589 733.77 C T PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.03874 0.03874 0.05644 None None None None None None BMP6|0.889563802|3.68%

BPHL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs74772741
dbSNP Clinvar
3129333 2082.77 G T PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.00479 0.00479 0.00377 0.28 0.79 None None None None None None BPHL|0.02891186|69.92%
View 33011510240923_annotated 6 rs2231364
dbSNP Clinvar
3127570 899.77 C A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00384 None None None None None None BPHL|0.02891186|69.92%

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 33011510240923_annotated 6 rs3736781
dbSNP Clinvar
26505362 5595.77 G A PASS 1/1 184 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 33011510240923_annotated 6 rs1321479
dbSNP Clinvar
26501897 2086.77 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.48414 None None None None None None BTN1A1|0.010791735|80.28%
View 33011510240923_annotated 6 rs9393728
dbSNP Clinvar
26509330 1462.77 C G PASS 1/1 45 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 33011510240923_annotated 6 rs3736782
dbSNP Clinvar
26505403 5802.77 C A PASS 1/1 196 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.48693 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 33011510240923_annotated 6 rs116782726
dbSNP Clinvar
26468201 1678.77 C T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.02017 0.02017 0.01545 None None None None None None BTN2A1|0.002518088|89.63%
View 33011510240923_annotated 6 rs3734541
dbSNP Clinvar
26468319 10700.77 C T PASS 1/1 345 SYNONYMOUS_CODING LOW None 0.14257 0.14260 0.14309 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 33011510240923_annotated 6 rs1614887
dbSNP Clinvar
26393021 1425.77 G A PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.57967 0.57970 0.35353 None None None None None None BTN2A2|0.003176243|88.35%

BVES

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 33011510240923_annotated 6 rs35952696
dbSNP Clinvar
105581410 1135.77 T C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00800 0.60 0.00 None None None None None None BVES|0.226955873|33.67%

C6orf1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 6 rs1150781
dbSNP Clinvar
34214322 848.77 C G PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.76518 0.76520 0.20890 0.00 0.02 None None None None None None C6orf1|0.002910185|88.8%

C6orf118

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 33011510240923_annotated 6 rs9459355
dbSNP Clinvar
165715460 1322.77 G C PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.16154 0.16150 0.20721 None None None None None None C6orf118|0.000790871|96.71%
View 33011510240923_annotated 6 rs510579
dbSNP Clinvar
165713961 617.77 A C PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.48363 0.48360 0.48355 0.11 0.88 None None None None None None C6orf118|0.000790871|96.71%
View 33011510240923_annotated 6 rs9459356
dbSNP Clinvar
165715673 1526.77 A G PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.16094 0.16090 0.20752 None None None None None None C6orf118|0.000790871|96.71%

C6orf120

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 33011510240923_annotated 6 rs4716383
dbSNP Clinvar
170102267 952.77 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.66733 0.66730 None None None None None None C6orf120|0.001635075|92.19%

C6orf132

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 33011510240923_annotated 6 rs9394865
dbSNP Clinvar
42073958 3233.06 C T PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.21805 0.21810 None None None None None None C6orf132|0.022955823|72.75%
View 33011510240923_annotated 6 rs9394863
dbSNP Clinvar
42072989 6415.77 G A PASS 1/1 215 SYNONYMOUS_CODING LOW None 0.21705 0.21710 0.12243 None None None None None None C6orf132|0.022955823|72.75%
View 33011510240923_annotated 6 rs9688934
dbSNP Clinvar
42110171 428.77 C G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.14717 0.14720 0.12681 1.00 0.00 None None None None None None C6orf132|0.022955823|72.75%