SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2083486427 GPR143 Health Risk Pathogenic —
RS2083496327 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2083498434 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2083502112 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2083505270 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2083506323 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083508651 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2
RS2083509815 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083512162 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2083566245 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS2083577399 GNG3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2083582255 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2083597981 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2083601046 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2083603903 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2083605298 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083607266 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2083655919 IFNGR2 Health Risk Pathogenic Immunodeficiency 28, Immunodeficiency 28
RS2083674980 ZNF335 Health Risk Pathogenic —
RS2083680371 ZNF335 Health Risk Likely pathogenic —
RS2083706682 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2083714751 CA4 Health Risk Likely pathogenic —
RS2083718945 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2083719845 MLH1 Health Risk Pathogenic —
RS2083724808 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2083734400 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2083735130 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2083749716 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS2083790483 SPG11 Health Risk Pathogenic Amyotrophic lateral sclerosis type 5, Amyotrophic lateral sclerosis type 5
RS2083812807 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2083814457 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2083814855 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2083820577 APC2 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS2083821626 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2083823146 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Breast carcinoma
RS2083881207 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2083881514 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2083906060 BLNK Health Risk Likely pathogenic Agammaglobulinemia 4, autosomal recessive
RS2083989142 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2084002305 CSTB Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2084026241 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084030667 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084039379 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084040947 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2084059565 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2084070588 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2084110970 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 3
RS2084149728 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2084197089 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2084217268 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2084236461 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084236498 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084240759 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084241095 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2084241184 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084241437 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084241683 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2084243437 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084252910 ATM;C11orf65 Health Risk Pathogenic —
RS2084254630 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2084270803 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2084284179 SLC32A1 Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 12
RS2084286998 SLC32A1 Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 12
RS2084297867 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084297946 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2084298057 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084298971 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084299537 NTHL1 Health Risk Pathogenic —
RS2084305079 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2084316484 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS2084362839 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084372140 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS2084374285 NTHL1 Health Risk Pathogenic —
RS2084387940 NTHL1 Health Risk Likely pathogenic —
RS2084389434 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS2084421079 NBEA Health Risk Likely pathogenic —
RS2084424489 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2084424722 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2084483775 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2084489672 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2084512563 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084517687 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS2084531474 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084546474 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS2084588345 IFT122 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS2084595386 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS2084615312 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084617417 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084619584 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2084621452 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2084621820 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2084634023 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2084640841 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome
RS2084643841 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2084645057 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2084648529 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2084667702 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084669441 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084674122 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084680161 SPG11 Health Risk Pathogenic —
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