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Genes:
AARS2, ABCC10, ACAT2, ADGB, AGER, AGPAT1, AKAP7, AL645922.1, ALDH5A1, ALDH8A1, ANKRD6, ANKS1A, ARID1B, ARMC2, ASCC3, ATXN1, B3GALT4, BAG6, BAI3, BCLAF1, BMP5, BMP6, BRD2, BRPF3, BTN1A1, BTN2A2, BTN3A3, C4B, C6ORF165, C6orf120, C6orf15, CAPN11, CCDC170, CCHCR1, CCR6, CD109, CD2AP, CDC5L, CDSN, CENPQ, CEP85L, CFB, CLIC1, CLIC5, CLPSL1, COL10A1, COL11A2, COL12A1, COL19A1, COL9A1, CPNE5, CRISP3, CTGF, CUL7, CUL9, CUTA, CYP21A2, DAAM2, DAXX, DCBLD1, DCDC2, DDX39B, DDX43, DEF6, DLK2, DNAH8, DOPEY1, DPCR1, DPPA5, DSP, DST, ECI2, EDN1, EFHC1, EHMT2, ENPP3, ENPP5, EPB41L2, EPHA7, ESR1, ETV7, EXOC2, EYS, F13A1, FAM83B, FANCE, FBXO30, FBXO9, FGD2, FIG4, FILIP1, FKBPL, FNDC1, FOXF2, FOXP4, FOXQ1, FRK, FRMD1, FRS3, GABBR1, GABRR1, GABRR2, GCNT2, GLO1, GLP1R, GLYATL3, GNL1, GOPC, GPLD1, GPR110, GPR111, GPR115, GPR116, GPR126, GPR6, GPR63, GPRC6A, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA5, GUCA1B, HACE1, HBS1L, HCRTR2, HDAC2, HDDC2, HFE, HIST1H2AB, HIST1H2AC, HIST1H2AD, HIST1H2AH, HIST1H2BA, HIST1H2BJ, HIST1H2BK, HIST1H2BM, HIST1H3G, HIST1H4C, HIST1H4G, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DPA1, HLA-DPB1, HLA-E, HLA-F, HLA-G, HMGA1, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HUS1B, IFNGR1, IGF2R, IL20RA, IRAK1BP1, ITPR3, IYD, JARID2, KCNK16, KCNK5, KCNQ5, KDM1B, KHDC1L, KHDC3L, KIAA0319, KIAA1244, KIF6, KIFC1, KLC4, KLHL32, L3MBTL3, LACE1, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LRRC1, LRRC16A, LY6G6D, MAK, MAP3K4, MAP7, MB21D1, MDC1, MDGA1, MDN1, ME1, MEA1, MICA, MICAL1, MICB, MLLT4, MMS22L, MOG, MRS2, MTFR2, MTHFD1L, MUC22, MUT, MYLIP, NDUFAF4, NEDD9, NELFE, NFKBIE, NFKBIL1, NHLRC1, NHSL1, NOTCH4, NOX3, NQO2, NRM, NT5E, OLIG3, OPRM1, OR10C1, OR12D2, OR2B6, OR2J1, ORC3, PARK2, PCMT1, PDE10A, PEX6, PHACTR2, PHF1, PHIP, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, POU3F2, POU5F1, PPARD, PPP1R10, PPP1R11, PPT2, PRDM13, PREP, PRICKLE4, PRPF4B, PRPH2, PRR18, PRRC2A, PSMG4, PSORS1C1, PTCHD4, PTK7, PTPRK, RAET1E, RAET1L, RARS2, REV3L, RGL2, RIMS1, RNGTT, RREB1, RRP36, RSPH3, RSPH4A, RTN4IP1, SAPCD1, SCAND3, SEC63, SENP6, SERPINB1, SERPINB6, SERPINB9, SKIV2L, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A1, SLC22A2, SLC22A3, SLC22A7, SLC2A12, SLC35D3, SMPD2, SNRNP48, SOBP, SOD2, STX11, STXBP5, SUMO4, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR9, TAGAP, TAP1, TAP2, TBC1D22B, TBC1D32, TBP, TCF19, TCTE1, TCTE3, TFAP2A, TFAP2B, TFB1M, TFEB, TINAG, TMEM244, TMEM30A, TMEM63B, TNXB, TPMT, TRAF3IP2, TRDN, TREML1, TREML2, TRERF1, TRIM10, TSPYL1, TTBK1, TTK, TUBB, TUBB2A, TULP1, TULP4, UBD, ULBP1, ULBP2, UNC5CL, UNC93A, UTRN, VARS, VEGFA, VNN1, WISP3, XPO5, ZBTB2, ZNF292, ZNF318, ZNF76,

Genes at Omim

AARS2, ACAT2, ALDH5A1, ARID1B, ATXN1, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSP, DST, EDN1, EFHC1, ESR1, EYS, F13A1, FANCE, FIG4, GCNT2, GRIK2, GRM1, GUCA1B, HACE1, HFE, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-G, HMGA1, IFNGR1, IGF2R, ITPR3, IYD, KCNQ5, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MOG, MUT, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, PDE10A, PEX6, PHIP, PLA2G7, PLG, PNPLA1, PRPH2, RARS2, RIMS1, RSPH3, RSPH4A, RTN4IP1, SEC63, SERPINB6, SKIV2L, SLC17A3, SOBP, SOD2, STX11, SUMO4, SYNE1, SYNGAP1, T, TAP1, TAP2, TBP, TFAP2A, TFAP2B, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB, TUBB2A, TULP1, VARS, VNN1, WISP3,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (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)
CLIC5 ?Deafness, autosomal recessive 103, 616042 (3)
COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A2 Fibrochondrogenesis 2, 614524 (3)
Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL9A1 ?Epiphyseal dysplasia, multiple, 6, 614135 (3)
Stickler syndrome, type IV, 614134 (3)
CUL7 3-M syndrome 1, 273750 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2 ?Deafness, autosomal recessive 66, 610212 (3)
Nephronophthisis 19, 616217 (3)
Sclerosing cholangitis, neonatal, 617394 (3)
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)
ESR1 {HDL response to hormone replacement, augmented} (3)
Breast cancer, somatic, 114480 (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FIG4 Amyotrophic lateral sclerosis 11, 612577 (3)
Charcot-Marie-Tooth disease, type 4J, 611228 (3)
?Polymicrogyria, bilateral temporooccipital, 612691 (3)
Yunis-Varon syndrome, 216340 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GRIK2 Mental retardation, autosomal recessive, 6, 611092 (3)
GRM1 Spinocerebellar ataxia 44, 617691 (3)
Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
GUCA1B Retinitis pigmentosa 48, 613827 (3)
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
HFE Hemochromatosis, 235200 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (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-G {Asthma, susceptibility to}, 600807 (2)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (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)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
IYD Thyroid dyshormonogenesis 4, 274800 (3)
KCNQ5 Mental retardation, autosomal dominant 46, 617601 (3)
KHDC3L Hydatidiform mole, recurrent, 2, 614293 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5 Leber congenital amaurosis 5, 604537 (3)
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LPA [LPA deficiency, congenital] (3)
{Coronary artery disease, susceptibility to} (1)
MAK Retinitis pigmentosa 62, 614181 (3)
MOG ?Narcolepsy 7, 614250 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NFKBIL1 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2 {?Breast cancer susceptibility}, 114480 (1)
NT5E Calcification of joints and arteries, 211800 (3)
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)
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)
RARS2 Pontocerebellar hypoplasia, type 6, 611523 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (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)
SEC63 Polycystic liver disease 2, 617004 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
STX11 Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
SUMO4 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
T {Neural tube defects, susceptibility to}, 182940 (3)
Sacral agenesis with vertebral anomalies, 615709 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TFAP2A Branchiooculofacial syndrome, 113620 (3)
TFAP2B Char syndrome, 169100 (3)
Patent ductus arteriosus 2, 617035 (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)
TUBB Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TULP1 Leber congenital amaurosis 15, 613843 (3)
Retinitis pigmentosa 14, 600132 (3)
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (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, ALDH5A1, ARID1B, ATXN1, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSP, DST, EDN1, EFHC1, ESR1, EYS, F13A1, FANCE, FIG4, GCNT2, GRIK2, GRM1, GUCA1B, HACE1, HFE, HLA-A, HLA-B, HSPA1L, IFNGR1, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MOG, MUT, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, PRPH2, RARS2, RIMS1, RSPH3, RSPH4A, RTN4IP1, SEC63, SERPINB6, SKIV2L, SOBP, STX11, SYNE1, SYNGAP1, T, TAP1, TAP2, TBP, TFAP2A, TFAP2B, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB, TUBB2A, TULP1, WISP3,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
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
CLIC5 Deafness, autosomal recessive 103
COL10A1 Metaphyseal chondrodysplasia, Schmid type
COL11A2 Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL9A1 Stickler syndrome, type IV
CUL7 Three M syndrome 1
Yakut short stature syndrome
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2 Deafness, autosomal recessive 66
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
ESR1 Estrogen resistance
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
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
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GRIK2 Mental retardation, autosomal recessive 6
GRM1 Spinocerebellar ataxia, autosomal recessive 13
GUCA1B Retinitis pigmentosa 48
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures
HFE Hemochromatosis
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HSPA1L Abacavir, susceptibility to toxicity with
IFNGR1 Immunodeficiency 27B
Immunodeficiency 27A
IYD Thyroid dyshormonogenesis 4
KHDC3L Hydatidiform mole, recurrent, 2
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
LAMA4 Cardiomyopathy, dilated, 1JJ
LCA5 Leber congenital amaurosis 5
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
LPA Lipoprotein A deficiency, congenital
MAK Retinitis pigmentosa 62
MOG Narcolepsy 7
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NDUFAF4 Mitochondrial complex I deficiency
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NT5E Calcification of joints and arteries
PARK2 Parkinson disease 2, autosomal recessive juvenile
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PEX6 Heimler syndrome 2
PKHD1 Polycystic kidney disease, autosomal recessive
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PLG Plasminogen deficiency, type I
PNPLA1 Ichthyosis, congenital, autosomal recessive 10
PRPH2 Choriodal dystrophy, central areolar 2
Retinitis punctata albescens
Macular dystrophy, vitelliform 3
Macula dystrophy, patterned 1
Retinitis pigmentosa 7
RARS2 Pontocerebellar hypoplasia, type 6
RIMS1 Cone-rod dystrophy 7
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
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
STX11 Hemophagocytic lymphohistiocytosis, familial, 4
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1 Mental retardation, autosomal dominant 5
T Chordoma
TAP1 Bare lymphocyte syndrome, type I
TAP2 Bare lymphocyte syndrome, type I
TBP Spinocerebellar ataxia 17
TFAP2A Branchiooculofacial sydrome
TFAP2B Char syndrome
Patent ductus arteriosus, familial, nonsyndromic
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
TUBB Congenital symmetric circumferential skin creases 1
Cortical dysplasia, complex, with other brain malformations 6
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

Genes at HGMD

Summary

Number of Variants: 1409
Number of Genes: 349

Export to: CSV

AARS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs78397386
dbSNP Clinvar
44270805 2855.06 C T PASS 0/1 217 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00369 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%
View 15ac02303_s1 genome 6 rs324136
dbSNP Clinvar
44275011 6083.14 T C PASS 1/1 199 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 15ac02303_s1 genome 6 rs325008
dbSNP Clinvar
44268371 2788.69 T C PASS 1/1 110 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 15ac02303_s1 genome 6 rs498512
dbSNP Clinvar
44269193 6584.4 C T PASS 1/1 220 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 . 43414068 14.91 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.54 None None None None None None ABCC10|0.125839341|46.49%

ACAT2

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 15ac02303_s1 genome 6 rs3465
dbSNP Clinvar
160198395 3155.61 G A PASS 0/1 274 SYNONYMOUS_CODING LOW None 0.23522 0.23520 0.31955 None None None None None None ACAT2|0.090493467|53.12%
View 15ac02303_s1 genome 6 rs25683
dbSNP Clinvar
160196343 2674.33 A G PASS 1/1 88 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.02 None None None None None None ACAT2|0.090493467|53.12%

ADGB

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 15ac02303_s1 genome 6 . 147012390 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.49 0.08 None None None None None None ADGB|0.008962502|81.7%
View 15ac02303_s1 genome 6 rs259370
dbSNP Clinvar
147136244 7.08 A G LowGQ;LowGQX;SB 1/1 1 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%

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 15ac02303_s1 genome 6 rs1800684
dbSNP Clinvar
32151994 1215.94 A T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.96426 0.96430 0.09633 None None None None None None AGER|0.358118947|23.58%
View 15ac02303_s1 genome 6 rs35795092
dbSNP Clinvar
32151420 3914.1 G C PASS 0/1 360 SYNONYMOUS_CODING LOW None 0.06849 0.06849 0.09298 None None None None None None RNF5|0.294853718|28.05%,AGER|0.358118947|23.58%

AGPAT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 . 32138337 9.8 G T LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None AGPAT1|0.479339709|16.78%

AKAP7

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 15ac02303_s1 genome 6 . 131520631 4.97 G A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AKAP7|0.092108276|52.79%

AL645922.1

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 15ac02303_s1 genome 6 rs3891366
dbSNP Clinvar
31973973 495.6 G A PASS 0/1 39 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21725 0.21730 0.86 None None None None None None None
View 15ac02303_s1 genome 6 rs9501393
dbSNP Clinvar
31974849 350.85 C G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.21880 0.22295 None None None None None None None

ALDH5A1

Omim - GeneCards - NCBI
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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 15ac02303_s1 genome 6 rs2760118
dbSNP Clinvar
24503590 1359.39 C T PASS 0/1 106 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 15ac02303_s1 genome 6 . 135239729 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.88 None None None None None None ALDH8A1|0.103938562|50.43%

ANKRD6

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 15ac02303_s1 genome 6 rs17292811
dbSNP Clinvar
90333599 14.91 A G LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.90415 0.90420 0.14826 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%

ANKS1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs2293242
dbSNP Clinvar
34949607 5020.85 C T PASS 1/1 180 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%
View 15ac02303_s1 genome 6 rs2177382
dbSNP Clinvar
35050506 3137.01 G A PASS 0/1 307 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.18430 None None None None None None ANKS1A|0.453129628|18.02%
View 15ac02303_s1 genome 6 rs820085
dbSNP Clinvar
35027927 2287.13 T C PASS 1/1 82 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%

ARID1B

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 15ac02303_s1 genome 6 rs3734441
dbSNP Clinvar
157405930 3857.23 G A PASS 1/1 148 SYNONYMOUS_CODING LOW None 0.49521 0.49520 0.47263 None None None None None None ARID1B|0.540737445|14.17%

ARMC2

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 15ac02303_s1 genome 6 rs200206972
dbSNP Clinvar
109215690 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.80 0.04 None None None None None None ARMC2|0.059551834|60.01%

ASCC3

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 15ac02303_s1 genome 6 rs41288423
dbSNP Clinvar
101166095 997.07 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.45867 0.45870 0.48401 None None None None None None ASCC3|0.710572602|8.22%
View 15ac02303_s1 genome 6 rs240768
dbSNP Clinvar
100957344 673.05 T C PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.13638 0.13640 0.09673 0.18 0.01 None None None None None None ASCC3|0.710572602|8.22%
View 15ac02303_s1 genome 6 rs9390698
dbSNP Clinvar
101296389 1157.26 G A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.35045 0.22 0.01 None None None None None None ASCC3|0.710572602|8.22%
View 15ac02303_s1 genome 6 rs240780
dbSNP Clinvar
100964147 593.68 G C PASS 0/1 52 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 15ac02303_s1 genome 6 rs33988845
dbSNP Clinvar
100964158 548.55 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.03974 0.03974 0.04844 None None None None None None ASCC3|0.710572602|8.22%
View 15ac02303_s1 genome 6 rs3213542
dbSNP Clinvar
100966006 389.48 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.12400 0.12400 0.08212 0.03 0.38 None None None None None None ASCC3|0.710572602|8.22%
View 15ac02303_s1 genome 6 rs239239
dbSNP Clinvar
101094554 2975.88 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.57129 0.57130 0.45087 None None None None None None ASCC3|0.710572602|8.22%

ATXN1

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 15ac02303_s1 genome 6 . 16328092 34.98 T G LowQD;SB 0/1 248 SYNONYMOUS_CODING LOW None None None None None None None ATXN1|0.832563526|5.05%
View 15ac02303_s1 genome 6 . 16327915 10461.79 A AT... PASS 0/1 329 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%
View 15ac02303_s1 genome 6 rs179990
dbSNP Clinvar
16327615 1683.84 A G PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.29271 None None None None None None ATXN1|0.832563526|5.05%
View 15ac02303_s1 genome 6 rs2075974
dbSNP Clinvar
16327330 4067.42 T C PASS 0/1 289 SYNONYMOUS_CODING LOW None 0.36921 0.36920 0.28095 None None None None None None ATXN1|0.832563526|5.05%

B3GALT4

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 15ac02303_s1 genome 6 . 33246329 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.76 None None None None None None B3GALT4|0.016282049|76.27%
View 15ac02303_s1 genome 6 . 33246206 4.97 G T LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.34 0.05 None None None None None None B3GALT4|0.016282049|76.27%

BAG6

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 15ac02303_s1 genome 6 rs1052486
dbSNP Clinvar
31610686 1415.69 A G PASS 0/1 138 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs1932618
dbSNP Clinvar
69666684 52.84 A G LowGQ;LowGQX 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.90535 0.90540 0.11725 0.99 0.00 None None None None None None ADGRB3|0.918272143|3.02%

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 15ac02303_s1 genome 6 rs6940018
dbSNP Clinvar
136599393 9.8 G C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.49820 0.49820 0.05 0.84 None None None None None None BCLAF1|0.862204176|4.44%
View 15ac02303_s1 genome 6 rs62431284
dbSNP Clinvar
136582497 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.61 None None None None None None BCLAF1|0.862204176|4.44%
View 15ac02303_s1 genome 6 rs6919254
dbSNP Clinvar
136599404 9.8 T C LowGQ;LowGQX;SB 1/1 1 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs3734444
dbSNP Clinvar
55739553 2045.08 A G PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.43510 0.43510 0.49054 None None None None None None BMP5|0.960503202|1.95%
View 15ac02303_s1 genome 6 rs41271330
dbSNP Clinvar
55639028 463.6 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.09145 0.09145 0.09511 None None None None None None BMP5|0.960503202|1.95%

BMP6

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 15ac02303_s1 genome 6 rs17557
dbSNP Clinvar
7862631 198.58 G C PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.59764 0.59760 0.48239 None None None None None None BMP6|0.889563802|3.68%

BRD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 . 32944462 7.08 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None BRD2|0.972652512|1.63%
View 15ac02303_s1 genome 6 . 32942385 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.44 None None None None None None BRD2|0.972652512|1.63%
View 15ac02303_s1 genome 6 rs516535
dbSNP Clinvar
32942302 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.34246 None None None None None None BRD2|0.972652512|1.63%
View 15ac02303_s1 genome 6 rs206778
dbSNP Clinvar
32946964 4.97 G A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.20967 0.20970 0.34 0.00 None None None None None None BRD2|0.972652512|1.63%

BRPF3

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 15ac02303_s1 genome 6 . 36178223 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None BRPF3|0.316454475|26.34%
View 15ac02303_s1 genome 6 . 36198321 7.08 C A LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None BRPF3|0.316454475|26.34%

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 15ac02303_s1 genome 6 rs3736781
dbSNP Clinvar
26505362 1711.72 G A PASS 0/1 102 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 15ac02303_s1 genome 6 rs3736782
dbSNP Clinvar
26505403 1570.31 C A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.48693 None None None None None None BTN1A1|0.010791735|80.28%
View 15ac02303_s1 genome 6 rs9393728
dbSNP Clinvar
26509330 3.16 C G LowGQX;LowQD;SB 0/1 4 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 15ac02303_s1 genome 6 rs1321479
dbSNP Clinvar
26501897 1235.27 T C PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.48414 None None None None None None BTN1A1|0.010791735|80.28%

BTN2A2

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 15ac02303_s1 genome 6 . 26390428 4.97 A T LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.56 None None None None None None BTN2A2|0.003176243|88.35%

BTN3A3

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 15ac02303_s1 genome 6 . 26446182 9.3 C A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None BTN3A3|0.000381223|99.07%

C4B

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 15ac02303_s1 genome 6 rs451637
dbSNP Clinvar
31994782 124.79 C T SB 0/1 29 SYNONYMOUS_CODING LOW None 0.10284 0.10280 0.17010 None None None None None None C4B|0.020653435|73.86%
View 15ac02303_s1 genome 6 rs406658
dbSNP Clinvar
31996524 1024.73 C A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.22424 0.22420 None None None None None None C4B|0.020653435|73.86%

C6orf120

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 15ac02303_s1 genome 6 rs141767157
dbSNP Clinvar
170102276 4.97 C T LowGQX;SB 0/1 2 SYNONYMOUS_CODING LOW None 0.04972 0.04972 None None None None None None C6orf120|0.001635075|92.19%
View 15ac02303_s1 genome 6 rs4716383
dbSNP Clinvar
170102267 3.07 A G LowGQX;LowQD;SB 0/1 2 SYNONYMOUS_CODING LOW None 0.66733 0.66730 None None None None None None C6orf120|0.001635075|92.19%

C6orf15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs1265055
dbSNP Clinvar
31079236 4823.86 G A PASS 0/1 431 SYNONYMOUS_CODING LOW None 0.53175 0.53170 0.44257 None None None None None None C6orf15|0.001868374|91.34%
View 15ac02303_s1 genome 6 rs1265053
dbSNP Clinvar
31079889 5851.43 C G PASS 0/1 426 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.46586 1.00 0.00 None None None None None None C6orf15|0.001868374|91.34%
View 15ac02303_s1 genome 6 rs1265054
dbSNP Clinvar
31079643 4748.69 T C PASS 0/1 405 NON_SYNONYMOUS_CODING MODERATE None 0.53195 0.53190 0.43745 1.00 0.00 None None None None None None C6orf15|0.001868374|91.34%

C6ORF165

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 15ac02303_s1 genome 6 . 88127981 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.03 None None None None None None None

CAPN11

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 15ac02303_s1 genome 6 . 44144721 14.92 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CAPN11|0.010375422|80.57%

CCDC170

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 15ac02303_s1 genome 6 rs6929137
dbSNP Clinvar
151936677 1955.1 G A PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.34944 0.34940 0.38024 0.09 0.02 None None None None None None CCDC170|0.073258235|56.72%
View 15ac02303_s1 genome 6 rs3734804
dbSNP Clinvar
151939181 4944.47 G A PASS 1/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.53155 0.53150 0.39388 1.00 0.00 None None None None None None CCDC170|0.073258235|56.72%
View 15ac02303_s1 genome 6 rs200650721
dbSNP Clinvar
151865707 520.98 A C PASS 0/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00051 0.04 0.05 None None None None None None CCDC170|0.073258235|56.72%
View 15ac02303_s1 genome 6 rs4870034
dbSNP Clinvar
151859314 836.49 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.60024 0.60020 0.41251 None None None None None None CCDC170|0.073258235|56.72%
View 15ac02303_s1 genome 6 rs12205837
dbSNP Clinvar
151894340 654.04 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.07668 0.07668 0.09675 0.07 0.05 None None None None None None CCDC170|0.073258235|56.72%
View 15ac02303_s1 genome 6 rs953767
dbSNP Clinvar
151894505 1793.9 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.94169 0.94170 0.08633 1.00 0.00 None None None None None None CCDC170|0.073258235|56.72%

CCHCR1

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 15ac02303_s1 genome 6 rs130073
dbSNP Clinvar
31111180 742.89 T C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.72065 0.72060 0.28006 None None None None None None CCHCR1|0.032661886|68.3%
View 15ac02303_s1 genome 6 rs130077
dbSNP Clinvar
31122330 3019.19 G A PASS 0/1 255 SYNONYMOUS_CODING LOW None 0.11442 0.11440 0.16058 None None None None None None CCHCR1|0.032661886|68.3%
View 15ac02303_s1 genome 6 rs130078
dbSNP Clinvar
31118565 2456.52 C G PASS 0/1 225 SYNONYMOUS_CODING LOW None 0.73003 0.73000 0.25036 None None None None None None CCHCR1|0.032661886|68.3%
View 15ac02303_s1 genome 6 rs130070
dbSNP Clinvar
31116220 2045.63 G A PASS 0/1 208 SYNONYMOUS_CODING LOW None 0.11422 0.11420 0.14889 None None None None None None CCHCR1|0.032661886|68.3%
View 15ac02303_s1 genome 6 rs3094225
dbSNP Clinvar
31113052 1518.36 G A PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.65915 0.65910 0.30427 None None None None None None CCHCR1|0.032661886|68.3%
View 15ac02303_s1 genome 6 rs12364
dbSNP Clinvar
31110786 1173.98 T A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.14257 0.14260 0.16773 None None None None None None CCHCR1|0.032661886|68.3%
View 15ac02303_s1 genome 6 rs3132539
dbSNP Clinvar
31113030 1745.97 A G PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.16232 None None None None None None CCHCR1|0.032661886|68.3%

CCR6

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 15ac02303_s1 genome 6 rs2071171
dbSNP Clinvar
167550042 7549.06 C T PASS 1/1 241 SYNONYMOUS_CODING LOW None 0.55791 0.55790 0.43826 None None None None None None CCR6|0.006438685|84.13%

CD109

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 15ac02303_s1 genome 6 rs6453696
dbSNP Clinvar
74466377 732.76 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.66833 0.66830 0.40402 None None None None None None CD109|0.035884994|67.17%
View 15ac02303_s1 genome 6 rs2917887
dbSNP Clinvar
74533192 3274.39 T G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.84465 0.84460 0.14063 None None None None None None CD109|0.035884994|67.17%
View 15ac02303_s1 genome 6 rs2917862
dbSNP Clinvar
74521947 1195.79 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.40835 0.40830 0.39959 0.17 0.01 None None None None None None CD109|0.035884994|67.17%
View 15ac02303_s1 genome 6 rs10455097
dbSNP Clinvar
74493432 841.33 A C PASS 0/1 50 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51558 0.51560 0.44364 1.00 0.00 None None None None None None CD109|0.035884994|67.17%

CD2AP

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 15ac02303_s1 genome 6 rs2039503
dbSNP Clinvar
47563692 6113.38 C T PASS 1/1 187 SYNONYMOUS_CODING LOW None 0.98303 0.98300 0.02430 None None None None None None CD2AP|0.343657419|24.58%

CDC5L

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 15ac02303_s1 genome 6 rs6934058
dbSNP Clinvar
44371714 14.92 C T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.29653 0.29650 0.12894 None None None None None None CDC5L|0.899227111|3.44%
View 15ac02303_s1 genome 6 . 44371739 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.04 None None None None None None CDC5L|0.899227111|3.44%

CDSN

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 15ac02303_s1 genome 6 rs3132554
dbSNP Clinvar
31084163 3272.0 A G PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE None 0.64697 0.64700 0.43957 1.00 0.00 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3130982
dbSNP Clinvar
31084075 2938.34 G C PASS 0/1 244 SYNONYMOUS_CODING LOW None 0.01478 0.63200 0.43964 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3130981
dbSNP Clinvar
31083813 499.37 T C SB 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.83367 0.83370 0.20065 1.00 0.00 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs1042126
dbSNP Clinvar
31084288 2681.22 T C PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.43876 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs1042127
dbSNP Clinvar
31084170 3625.27 A C PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.19589 0.19590 0.15923 0.01 0.00 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3132552
dbSNP Clinvar
31085269 545.36 A G PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.83447 0.83450 0.19757 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3094215
dbSNP Clinvar
31084684 3773.27 G A PASS 0/1 261 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.43934 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3130983
dbSNP Clinvar
31084792 5608.68 C T PASS 0/1 408 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.43864 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3130984
dbSNP Clinvar
31084964 2936.0 T C PASS 0/1 218 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.21490 1.00 0.00 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs3132553
dbSNP Clinvar
31085200 928.63 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.83447 0.83450 0.20351 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 15ac02303_s1 genome 6 rs4713436
dbSNP Clinvar
31084639 2681.07 C T PASS 0/1 189 SYNONYMOUS_CODING LOW None 0.19589 0.19590 0.15826 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%

CENPQ

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 15ac02303_s1 genome 6 . 49456390 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.84 None None None None None None CENPQ|0.041539908|65.29%

CEP85L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs3734382
dbSNP Clinvar
118886961 7520.86 G T PASS 1/1 257 NON_SYNONYMOUS_CODING MODERATE None 0.60663 0.60660 0.26011 0.71 0.00 None None None None None None CEP85L|0.141033515|44.27%
View 15ac02303_s1 genome 6 rs3734381
dbSNP Clinvar
118887303 8989.1 T C PASS 1/1 311 NON_SYNONYMOUS_CODING MODERATE None 0.43690 0.43690 0.46479 0.22 0.00 None None None None None None CEP85L|0.141033515|44.27%