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+ Genes 413

Genes:
AARS2, ABCF1, ABHD16A, ABT1, ACAT2, ACOT13, ADGB, AGER, AIM1, AK9, AKAP7, ANKRD6, ANKS1A, APOBEC2, APOM, ARHGAP18, ARID1B, ARMC2, ASCC3, ATXN1, B3GAT2, BAG6, BAI3, BAK1, BCLAF1, BEND3, BMP5, BMP6, BRD2, BRPF3, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTNL2, C6orf10, C6orf141, C6orf15, C6orf195, C6orf211, C6orf25, CAGE1, CAP2, CAPN11, CCDC170, CCHCR1, CCR6, CD109, CD2AP, CD83, CDKN1A, CDSN, CEP85L, CFB, CLDN20, CNKSR3, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP1, CSNK2B, CUL7, CUL9, CUTA, CYP39A1, DAAM2, DACT2, DAXX, DDX39B, DDX43, DEF6, DNAH8, DPCR1, DSE, DSP, DST, DUSP22, ECT2L, EDN1, EFHC1, EHMT2, ELOVL2, ENPP4, EPHA7, ESR1, EXOC2, EYS, F13A1, FAM162B, FAM217A, FAM50B, FAM65B, FARS2, FAXC, FBXO30, FBXO5, FGD2, FHL5, FKBPL, FNDC1, FOXF2, FOXO3, FRMD1, FUCA2, FUT9, GABRR1, GABRR2, GCNT2, GFRAL, GJB7, GLO1, GLP1R, GMPR, GNL1, GOPC, GPANK1, GPLD1, GPR110, GPR111, GPR116, GPR126, GPR31, GPR63, GPRC6A, GPX6, GRM1, GRM4, GSTA2, GSTA5, GTPBP2, GUCA1B, HBS1L, HDGFL1, HFE, HINT3, HIST1H1D, HIST1H2AA, HIST1H2AB, HIST1H2BA, HIST1H2BE, HIST1H2BF, HIST1H3A, HIST1H3C, HIST1H4B, HIST1H4H, HIVEP2, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-E, HMGN4, HSPA1B, HSPA1L, HTR1B, HUS1B, IER3, IGF2R, IL20RA, IMPG1, IP6K3, IPCEF1, IRAK1BP1, ITPR3, IYD, JARID2, KCNK16, KCNK17, KCNQ5, KCTD20, KDM1B, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1919, KIF13A, KIF6, KIFC1, KLHL31, L3MBTL3, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LRFN2, LRRC16A, LTA, LY6G5B, LY6G6D, LY6G6F, MAK, MAN1A1, MAP3K4, MAP3K5, MAS1, MB21D1, MCCD1, MCM9, MDC1, MDGA1, MDN1, ME1, MEP1A, METTL24, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MOXD1, MRAP2, MRPL14, MRPL18, MRS2, MSH5, MTCH1, MTHFD1L, MTRF1L, MUC22, MUT, MYB, MYCT1, MYLIP, NCOA7, NCR2, NEDD9, NFKBIL1, NOTCH4, NOX3, NQO2, NT5E, NUP153, OOEP, OPRM1, OR10C1, OR12D2, OR12D3, OR2B2, OR2B6, OR2H2, OR2J2, OR2J3, OR5V1, PAQR8, PDE10A, PGBD1, PHACTR2, PHF1, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, POU5F1, PPARD, PPP1R14C, PPP1R3G, PPT2, PRDM1, PREP, PRICKLE4, PRIM2, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB8, PSMG4, PSORS1C2, PTPRK, PXDC1, PXT1, QRSL1, RAET1E, RAET1L, RANBP9, REV3L, RFPL4B, RGL2, RIMS1, RING1, RIOK1, RIPK1, RMND1, RNASET2, RNF8, ROS1, RP11-514O12.4, RPS6KA2, RXRB, SAMD5, SASH1, SCAND3, SCML4, SEC63, SENP6, SERAC1, SERPINB6, SHPRH, SKIV2L, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A7, SLC25A27, SLC39A7, SLC44A4, SMPD2, SNAP91, SNRNP48, SOGA3, SPATS1, STXBP5, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR5, TAAR9, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TCF19, TCP10, TCP10L2, TCTE1, TCTE3, TDP2, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TMEM151B, TMEM200A, TMEM244, TNXB, TPBG, TPD52L1, TRAF3IP2, TRDN, TREML4, TRIM10, TSPYL4, TTK, TTLL2, TULP1, TULP4, UBE2J1, UBE3D, UBR2, UFL1, UHRF1BP1, ULBP2, UNC5CL, UNC93A, USP45, UTRN, VARS, VARS2, VEGFA, VNN2, VPS52, WDR27, WDR46, WISP3, WRNIP1, XPO5, ZBTB22, ZBTB9, ZDHHC14, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF184, ZNF311, ZNF76, ZSCAN12, ZSCAN31,

+ Genes associated with diseases 89

Genes at Omim

AARS2, ACAT2, ARID1B, ATXN1, BTNL2, CD2AP, CDSN, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, DSE, DSP, DST, EDN1, EFHC1, ESR1, EYS, F13A1, FARS2, GCNT2, GRM1, GTPBP2, GUCA1B, HFE, HIVEP2, HLA-B, HLA-C, HLA-DQB1, IGF2R, IMPG1, ITPR3, IYD, KCNQ5, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LTA, MAK, MCM9, MOG, MRAP2, MSH5, MUT, MYB, NFKBIL1, NQO2, NT5E, OR2J3, PDE10A, PHIP, PLA2G7, PLG, PNPLA1, PRPH2, PSMB8, RIMS1, RIPK1, RMND1, RNASET2, SASH1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A3, SLC44A4, SYNE1, SYNGAP1, T, TAP1, TAP2, TAPBP, TBC1D7, TDP2, THBS2, TNXB, TRAF3IP2, TRDN, TULP1, VARS, VARS2, WISP3, ZFP57,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (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)
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)
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)
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)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (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)
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-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-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (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)
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)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MCM9 Ovarian dysgenesis 4, 616185 (3)
MOG ?Narcolepsy 7, 614250 (3)
MRAP2 {?Obesity, susceptibility to, BMIQ18}, 615457 (3)
MSH5 ?Premature ovarian failure 13, 617442 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
MYB {T-cell acute lymphoblastic leukemia} (3)
NFKBIL1 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
NQO2 {?Breast cancer susceptibility}, 114480 (1)
NT5E Calcification of joints and arteries, 211800 (3)
OR2J3 [C3HEX, ability to smell], 615082 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
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)
PSMB8 Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
SASH1 Dyschromatosis universalis hereditaria 1, 127500 (3)
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63 Polycystic liver disease 2, 617004 (3)
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SLC44A4 ?Deafness, autosomal dominant 72, 617606 (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)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
THBS2 {Lumbar disc herniation, susceptibility to}, 603932 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TRAF3IP2 {Psoriasis susceptibility 13}, 614070 (3)
?Candidiasis, familial, 8, 615527 (3)
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TULP1 Leber congenital amaurosis 15, 613843 (3)
Retinitis pigmentosa 14, 600132 (3)
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
ZFP57 Diabetes mellitus, transient neonatal, 1, 601410 (3)

Genes at Clinical Genomics Database

AARS2, ARID1B, ATXN1, CD2AP, CDSN, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, DSE, DSP, DST, EDN1, EFHC1, ESR1, EYS, F13A1, FAM65B, FARS2, GCNT2, GRM1, GUCA1B, HFE, HLA-B, HSPA1L, IMPG1, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MCM9, MOG, MUT, NT5E, PDE10A, PKHD1, PLA2G7, PLG, PNPLA1, PRPH2, PSMB8, RIMS1, RMND1, RNASET2, SEC63, SERAC1, SERPINB6, SKIV2L, SYNE1, SYNGAP1, T, TAP1, TAP2, TAPBP, TBC1D7, TDP2, TNXB, TRAF3IP2, TRDN, TULP1, VARS2, WISP3, ZFP57,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
ATXN1 Spinocerebellar ataxia 1
CD2AP Focal segmental glomerulosclerosis 3
CDSN Hypotrichosis 2
Peeling skin syndrome 1
CFB Hemolytic uremic syndrome, atypical
Complement factor B deficiency
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
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
ESR1 Estrogen resistance
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FARS2 Combined oxidative phosphorylation deficiency 14
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GRM1 Spinocerebellar ataxia, autosomal recessive 13
GUCA1B Retinitis pigmentosa 48
HFE Hemochromatosis
HLA-B Drug-induced toxicity, susceptibility to
HSPA1L Abacavir, susceptibility to toxicity with
IMPG1 Macular dystrophy, vitelliform, 4
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
MCM9 Ovarian dysgenesis 4
MOG Narcolepsy 7
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NT5E Calcification of joints and arteries
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
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
PSMB8 Nakajo-Nishimura syndrome
Autoinflammation, lipodystrophy, and dermatosis syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
RIMS1 Cone-rod dystrophy 7
RMND1 Combined oxidative phosphorylation deficiency 11
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
SEC63 Polycystic liver disease
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
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
TAPBP Bare lymphocyte syndrome, type I
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TRAF3IP2 Candidiasis, familial 8
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TULP1 Leber congenital amaurosis 15
Retinitis pigmentosa 14
VARS2 Combined oxidative phosphorylation deficiency 20
WISP3 Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Arthropathy, progressive pseudorheumatoid, of childhood
ZFP57 Diabetes mellitus, transient neonatal, 1

Genes at HGMD

Summary

Number of Variants: 1736
Number of Genes: 413

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 tsvc_variants_ionxpress_001-5225 6 rs324136
dbSNP Clinvar 		44275011 1124.86 T C PASS 1/1 120 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 tsvc_variants_ionxpress_001-5225 6 rs325008
dbSNP Clinvar 		44268371 855.308 T C PASS 1/1 92 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%

ABCF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs72545970,rs4148252
dbSNP Clinvar 		30558477 50.2785 G GA PASS 0/1 48 None None None 0.71406 0.71410 0.30404 None None None None None None ABCF1|0.199313589|36.78%

ABHD16A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs1475865
dbSNP Clinvar 		31657413 142.29 T C PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.81609 0.81610 0.27590 None None None None None None ABHD16A|0.218787308|34.5%

ABT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs3800303
dbSNP Clinvar 		26598188 230.914 A G PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.51617 0.51620 0.43918 None None None None None None ABT1|0.032342215|68.44%
View tsvc_variants_ionxpress_001-5225 6 rs3800302
dbSNP Clinvar 		26597333 431.264 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.70867 0.70870 0.35268 None None None None None None ABT1|0.032342215|68.44%

ACAT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs25683
dbSNP Clinvar 		160196343 165.024 A G PASS 0/1 76 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.82 None None None None None None ACAT2|0.090493467|53.12%
View tsvc_variants_ionxpress_001-5225 6 rs3465
dbSNP Clinvar 		160198395 62.2163 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.23522 0.23520 0.31955 None None None None None None ACAT2|0.090493467|53.12%

ACOT13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs7765904
dbSNP Clinvar 		24698215 880.938 G A PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.14736 0.14740 0.22290 None None None None None None ACOT13|0.032154156|68.53%

ADGB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs9647637
dbSNP Clinvar 		147067093 169.646 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.16054 0.16050 0.21485 None None None None None None ADGB|0.008962502|81.7%
View tsvc_variants_ionxpress_001-5225 6 rs9497606
dbSNP Clinvar 		146993445 162.277 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.28415 0.28410 0.25975 0.36 0.04 None None None None None None ADGB|0.008962502|81.7%
View tsvc_variants_ionxpress_001-5225 6 rs1052444
dbSNP Clinvar 		147136212 51.5024 A T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.28922 0.05 0.99 None None None None None None ADGB|0.008962502|81.7%
View tsvc_variants_ionxpress_001-5225 6 rs259370
dbSNP Clinvar 		147136244 37.3229 A G PASS 0/1 26 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
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 tsvc_variants_ionxpress_001-5225 6 rs1800684
dbSNP Clinvar 		32151994 143.968 A T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.96426 0.96430 0.09633 None None None None None None AGER|0.358118947|23.58%

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 tsvc_variants_ionxpress_001-5225 6 rs144881884
dbSNP Clinvar 		106967831 172.594 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00492 None None None None None None AIM1|0.106090951|49.97%
View tsvc_variants_ionxpress_001-5225 6 rs783396
dbSNP Clinvar 		106987370 129.301 A C PASS 0/1 53 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%
View tsvc_variants_ionxpress_001-5225 6 rs1159148
dbSNP Clinvar 		106967185 191.282 A C PASS 0/1 74 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 tsvc_variants_ionxpress_001-5225 6 rs2297970
dbSNP Clinvar 		106999822 438.616 G A PASS 1/1 50 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%

AK9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs10499052
dbSNP Clinvar 		109885475 234.732 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.16154 0.16150 0.21857 0.00 1.00 None None None None None None AK9|0.032678932|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs2277114
dbSNP Clinvar 		109827716 117.585 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.38039 0.38040 0.35502 0.62 0.00 None None None None None None AK9|0.032678932|68.3%

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 tsvc_variants_ionxpress_001-5225 6 rs1190788
dbSNP Clinvar 		131520655 33.3225 G A PASS 0/1 24 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%

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 tsvc_variants_ionxpress_001-5225 6 rs3210511
dbSNP Clinvar 		90340276 490.156 G A PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.60084 0.60080 0.48581 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View tsvc_variants_ionxpress_001-5225 6 rs17292811
dbSNP Clinvar 		90333599 210.446 A G PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.90415 0.90420 0.14826 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View tsvc_variants_ionxpress_001-5225 6 rs3748085
dbSNP Clinvar 		90315789 554.538 A G PASS 1/1 60 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 tsvc_variants_ionxpress_001-5225 6 rs9353687
dbSNP Clinvar 		90338863 94.6731 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.16793 0.16790 0.18347 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%

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 tsvc_variants_ionxpress_001-5225 6 rs2293242
dbSNP Clinvar 		34949607 32.0957 C T PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%
View tsvc_variants_ionxpress_001-5225 6 rs2177382
dbSNP Clinvar 		35050506 222.202 G A PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.18430 None None None None None None ANKS1A|0.453129628|18.02%
View tsvc_variants_ionxpress_001-5225 6 rs820085
dbSNP Clinvar 		35027927 188.028 T C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.99042 0.99040 0.01299 1.00 0.00 None None None None None None ANKS1A|0.453129628|18.02%

APOBEC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs41273362
dbSNP Clinvar 		41029294 202.446 C A PASS 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00220 0.00220 0.00692 0.00 0.98 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%

APOM
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 tsvc_variants_ionxpress_001-5225 6 rs707921
dbSNP Clinvar 		31625541 129.629 C A PASS 0/1 54 None None None 0.11921 0.11920 0.09007 None None None None None None APOM|0.162107126|41.28%
View tsvc_variants_ionxpress_001-5225 6 rs707922
dbSNP Clinvar 		31625507 156.754 G T PASS 0/1 60 None None None 0.17632 0.17630 0.14787 0.19 0.00 None None None None None None APOM|0.162107126|41.28%

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 tsvc_variants_ionxpress_001-5225 6 rs3752536
dbSNP Clinvar 		130031215 571.238 T C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.81270 0.81270 0.15731 1.00 0.00 None None None None None None ARHGAP18|0.168100451|40.56%

ARID1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs3734441
dbSNP Clinvar 		157405930 153.419 G A PASS 0/1 87 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs140340203
dbSNP Clinvar 		109274244 58.4902 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00285 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 tsvc_variants_ionxpress_001-5225 6 rs240780
dbSNP Clinvar 		100964147 162.429 G C PASS 0/1 45 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 tsvc_variants_ionxpress_001-5225 6 rs239239
dbSNP Clinvar 		101094554 487.194 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.57129 0.57130 0.45087 None None None None None None ASCC3|0.710572602|8.22%
View tsvc_variants_ionxpress_001-5225 6 rs9390698
dbSNP Clinvar 		101296389 243.704 G A PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.35045 0.22 0.00 None None None None None None ASCC3|0.710572602|8.22%

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 tsvc_variants_ionxpress_001-5225 6 rs16885
dbSNP Clinvar 		16306751 211.262 G A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.12280 0.14416 0.17 0.06 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 tsvc_variants_ionxpress_001-5225 6 . 71665986 31.613 GC G PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None B3GAT2|0.224931204|33.88%

BAG6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs1052486
dbSNP Clinvar 		31610686 174.933 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.50419 0.50420 0.43634 0.91 0.00 None None None None None None BAG6|0.203831216|36.26%

BAI3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs2296974
dbSNP Clinvar 		70064187 157.744 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.18051 0.18050 0.21805 None None None None None None ADGRB3|0.918272143|3.02%
View tsvc_variants_ionxpress_001-5225 6 rs913543
dbSNP Clinvar 		70071173 67.9874 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.48622 0.48620 0.36812 None None None None None None ADGRB3|0.918272143|3.02%
View tsvc_variants_ionxpress_001-5225 6 rs1932618
dbSNP Clinvar 		69666684 554.026 A G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.90535 0.90540 0.11725 0.99 0.01 None None None None None None ADGRB3|0.918272143|3.02%

BAK1
Omim - GeneCards - NCBI
Options Individual Chr
 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 tsvc_variants_ionxpress_001-5225 6 rs561276
dbSNP Clinvar 		33543116 66.5831 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.03854 0.03854 0.04152 None None None None None None BAK1|0.062715344|59.13%

BCLAF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs1967446
dbSNP Clinvar 		136597288 223.984 A C PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.26 None None None None None None BCLAF1|0.862204176|4.44%
View tsvc_variants_ionxpress_001-5225 6 rs6940018
dbSNP Clinvar 		136599393 282.282 G C PASS 0/1 187 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 tsvc_variants_ionxpress_001-5225 6 rs6919254
dbSNP Clinvar 		136599404 282.447 T C PASS 0/1 188 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View tsvc_variants_ionxpress_001-5225 6 rs1967445
dbSNP Clinvar 		136597281 214.736 A T PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.39 None None None None None None BCLAF1|0.862204176|4.44%
View tsvc_variants_ionxpress_001-5225 6 rs1967444
dbSNP Clinvar 		136597262 225.808 T C PASS 0/1 141 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%

BEND3
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 tsvc_variants_ionxpress_001-5225 6 rs3814073
dbSNP Clinvar 		107391396 312.34 G A PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.16154 None None None None None None BEND3|0.218793148|34.49%

BMP5
Omim - GeneCards - NCBI
Options Individual Chr
 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 tsvc_variants_ionxpress_001-5225 6 rs3734444
dbSNP Clinvar 		55739553 429.075 A G PASS 1/1 49 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 tsvc_variants_ionxpress_001-5225 6 rs17557
dbSNP Clinvar 		7862631 138.788 G C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.59764 0.59760 0.48239 None None None None None None BMP6|0.889563802|3.68%
View tsvc_variants_ionxpress_001-5225 6 rs61733611
dbSNP Clinvar 		7862556 77.417 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.03129 None None None None None None BMP6|0.889563802|3.68%

BRD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 . 32942301 655.778 AG A,AA PASS 1/1 71 FRAME_SHIFT HIGH None None None None None None None BRD2|0.972652512|1.63%
View tsvc_variants_ionxpress_001-5225 6 rs138097363
dbSNP Clinvar 		32942386 102.601 C A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00208 None None None None None None BRD2|0.972652512|1.63%
View tsvc_variants_ionxpress_001-5225 6 rs11908
dbSNP Clinvar 		32944746 55.2622 G A PASS 0/1 60 None None None 0.26338 0.26340 0.29082 None None None None None None BRD2|0.972652512|1.63%
View tsvc_variants_ionxpress_001-5225 6 rs206781
dbSNP Clinvar 		32946133 183.853 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.31472 None None None None None None BRD2|0.972652512|1.63%

BRPF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs45504893
dbSNP Clinvar 		36168628 42.4852 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.04732 0.04732 0.05405 0.28 0.00 None None None None None None BRPF3|0.316454475|26.34%

BTN1A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs3736782
dbSNP Clinvar 		26505403 207.873 C A PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.48693 None None None None None None BTN1A1|0.010791735|80.28%
View tsvc_variants_ionxpress_001-5225 6 rs9393728
dbSNP Clinvar 		26509330 197.535 C G PASS 0/1 93 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 tsvc_variants_ionxpress_001-5225 6 rs3736781
dbSNP Clinvar 		26505362 219.248 G A PASS 0/1 136 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 tsvc_variants_ionxpress_001-5225 6 rs1321479
dbSNP Clinvar 		26501897 173.563 T C PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.48414 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 tsvc_variants_ionxpress_001-5225 6 rs3734544
dbSNP Clinvar 		26468660 118.961 G A PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.16234 0.16230 0.18007 None None None None None None BTN2A1|0.002518088|89.63%
View tsvc_variants_ionxpress_001-5225 6 rs143104579
dbSNP Clinvar 		26459997 158.728 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.00958 0.00959 0.01261 0.70 0.01 None None None None None None BTN2A1|0.002518088|89.63%

BTN2A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs142803339
dbSNP Clinvar 		26392629 159.279 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.00919 0.00919 0.00930 0.02 0.92 None None None None None None BTN2A2|0.003176243|88.35%
View tsvc_variants_ionxpress_001-5225 6 rs1614887
dbSNP Clinvar 		26393021 179.064 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.57967 0.57970 0.35353 None None None None None None BTN2A2|0.003176243|88.35%
View tsvc_variants_ionxpress_001-5225 6 rs62617839
dbSNP Clinvar 		26388405 163.221 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.04493 0.04493 0.05805 0.06 0.60 None None None None None None BTN2A2|0.003176243|88.35%

BTN3A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs55676749
dbSNP Clinvar 		26405816 217.134 T C PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.01637 0.01637 0.01715 0.08 0.01 None None None None None None BTN3A1|0.000649602|97.54%

BTN3A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_001-5225 6 rs9379860
dbSNP Clinvar 		26370605 415.516 T C PASS 0/1 226 SYNONYMOUS_CODING LOW None 0.35044 0.35040 0.40527 None None None None None None BTN3A2|0.000374625|99.12%
View tsvc_variants_ionxpress_001-5225 6 rs35183513
dbSNP Clinvar 		26370748 207.909 G A PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.10463 0.10460 0.13132 0.40 0.00 None None None None None None BTN3A2|0.000374625|99.12%
View tsvc_variants_ionxpress_001-5225 6 rs9379862
dbSNP Clinvar 		26370707 303.728 T C PASS 0/1 205 SYNONYMOUS_CODING LOW None 0.23602 0.23600 0.26657 None None None None None None BTN3A2|0.000374625|99.12%

BTNL2
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 tsvc_variants_ionxpress_001-5225 6 rs2076530
dbSNP Clinvar 		32363816 144.321 T C PASS 0/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38698 0.38700 0.39699 1.00 0.00 None None None None None None BTNL2|0.00846386|82.19%

C6orf10
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 tsvc_variants_ionxpress_001-5225 6 rs3129941
dbSNP Clinvar 		32337686 103.864 A G PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.80332 0.80330 0.25421 1.00 0.00 None None None None None None C6orf10|0.001183307|94.56%

C6orf141
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 tsvc_variants_ionxpress_001-5225 6 rs6919674
dbSNP Clinvar 		49518914 442.392 C G PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.98023 0.98020 0.01621 1.00 0.00 None None None None None None C6orf141|0.000793334|96.68%

C6orf15
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 tsvc_variants_ionxpress_001-5225 6 rs2233983
dbSNP Clinvar 		31079371 105.3 C G PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.04988 None None None None None None C6orf15|0.001868374|91.34%
View tsvc_variants_ionxpress_001-5225 6 rs1265055
dbSNP Clinvar 		31079236 125.157 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.53175 0.53170 0.44257 None None None None None None C6orf15|0.001868374|91.34%
View tsvc_variants_ionxpress_001-5225 6 rs2233978
dbSNP Clinvar 		31079703 100.949 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.18490 0.18490 0.07045 1.00 0.00 None None None None None None C6orf15|0.001868374|91.34%
View tsvc_variants_ionxpress_001-5225 6 rs1265054
dbSNP Clinvar 		31079643 101.63 T C PASS 0/1 61 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%
View tsvc_variants_ionxpress_001-5225 6 rs2233977
dbSNP Clinvar 		31079894 129.535 A G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.21386 0.21390 0.14762 1.00 0.00 None None None None None None C6orf15|0.001868374|91.34%
View tsvc_variants_ionxpress_001-5225 6 rs1265053
dbSNP Clinvar 		31079889 130.791 C G PASS 0/1 48 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 tsvc_variants_ionxpress_001-5225 6 rs2233984
dbSNP Clinvar 		31079264 135.743 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.10403 0.10400 0.04870 0.00 0.97 None None None None None None C6orf15|0.001868374|91.34%
View tsvc_variants_ionxpress_001-5225 6 rs2233985
dbSNP Clinvar 		31079242 135.65 A G PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.10463 0.10460 0.04997 None None None None None None C6orf15|0.001868374|91.34%

C6orf195
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 tsvc_variants_ionxpress_001-5225 6 rs6902511
dbSNP Clinvar 		2623820 621.863 G A PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.21977 None None None None None None LINC01600|0.000309699|99.38%

C6orf211
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 tsvc_variants_ionxpress_001-5225 6 rs35972078
dbSNP Clinvar 		151789868 83.8 G A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.07907 0.07907 0.10734 0.69 0.00 None None None None None None ARMT1|0.053639098|61.57%

C6orf25
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 tsvc_variants_ionxpress_001-5225 6 rs11575845
dbSNP Clinvar 		31692386 78.7946 C G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.05731 0.05731 0.07343 0.45 0.00 None None None None None None C6orf25|0.013951347|77.91%

CAGE1
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 tsvc_variants_ionxpress_001-5225 6 rs9406026
dbSNP Clinvar 		7387236 138.038 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.37360 0.37360 None None None None None None CAGE1|0.006487413|84.08%

CAP2
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 tsvc_variants_ionxpress_001-5225 6 rs9256
dbSNP Clinvar 		17543302 103.981 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.62640 0.62640 0.35430 None None None None None None CAP2|0.167399456|40.61%

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 tsvc_variants_ionxpress_001-5225 6 rs7761137
dbSNP Clinvar 		44151490 930.999 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.27336 0.27340 0.31836 1.00 0.00 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 tsvc_variants_ionxpress_001-5225 6 rs4870034
dbSNP Clinvar 		151859314 116.595 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.60024 0.60020 0.41251 None None None None None None CCDC170|0.073258235|56.72%
View tsvc_variants_ionxpress_001-5225 6 rs953767
dbSNP Clinvar 		151894505 138.38 T C PASS 0/1 75 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%
View tsvc_variants_ionxpress_001-5225 6 rs3734804
dbSNP Clinvar 		151939181 114.273 G A PASS 0/1 66 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%

CCHCR1
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 tsvc_variants_ionxpress_001-5225 6 rs743401
dbSNP Clinvar 		31125158 1042.76 C T PASS 1/1 109 None None None 0.65495 0.65500 0.36649 1.00 0.00 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs130073
dbSNP Clinvar 		31111180 820.19 T C PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.72065 0.72060 0.28006 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs1576
dbSNP Clinvar 		31110391 68.6766 G C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.22304 0.22300 0.29756 0.01 0.00 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs3132539
dbSNP Clinvar 		31113030 1728.99 A G PASS 1/1 187 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.16232 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs130071
dbSNP Clinvar 		31116210 158.677 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.19549 0.19550 0.26340 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs130068
dbSNP Clinvar 		31116246 490.316 G A PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.40994 0.40990 0.44076 0.12 0.00 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs2027937
dbSNP Clinvar 		31116502 103.588 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.06518 0.08 1.00 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs130067
dbSNP Clinvar 		31118511 203.833 T G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.25499 0.25500 0.19538 0.37 0.01 None None None None None None CCHCR1|0.032661886|68.3%
View tsvc_variants_ionxpress_001-5225 6 rs130078
dbSNP Clinvar 		31118565 616.5 C G PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.73003 0.73000 0.25036 None None None None None None CCHCR1|0.032661886|68.3%