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
RS2136078402 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136078405 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136078570 HPS1 Health Risk Likely pathogenic —
RS2136079024 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136079548 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136081113 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136081238 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136081849 PHF21A Health Risk Likely pathogenic —
RS2136082682 ACAD8 Health Risk Pathogenic —
RS2136083128 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136083409 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS2136083495 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2136083690 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, HPS1-related disorder
RS2136084314 HPS1 Health Risk Pathogenic —
RS2136084930 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136087305 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2136087722 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136088227 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136088420 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136088934 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136088954 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2136089217 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136089682 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136089858 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136089877 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136089949 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136090023 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2136090024 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS2136090126 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136090243 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Retinal dystrophy
RS2136090382 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS2136090423 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136090574 FANCC Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2136090597 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2136090624 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136090739 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136090788 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136090829 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2136090871 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2136091086 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136091103 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136091120 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136091157 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2136091166 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, BBS10-related disorder
RS2136091240 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136091244 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS2136091512 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136091633 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2136091638 STAT2 Health Risk Likely pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS2136091654 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS2136092552 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136092746 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136092832 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136094253 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136094331 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136100876 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136101131 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136101303 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136101386 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2136101497 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136101566 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136102011 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136102345 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS2136102397 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2136102457 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2136102483 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2136102861 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136102892 ITGA7 Health Risk Likely pathogenic —
RS2136103070 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2136104001 CNOT2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2136106360 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2136109022 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136110242 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136111335 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136111524 MEN1 Health Risk Pathogenic/Likely pathogenic —
RS2136111597 MEN1 Health Risk Conflicting classifications of pathogenicity MEN1-related disorder, Multiple endocrine neoplasia
RS2136111918 DENND5A Health Risk Pathogenic —
RS2136117225 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, ATM-related cancer predisposition
RS2136117686 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136117722 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136118352 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136118927 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136118998 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136119153 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136120898 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136121259 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136122681 HPS1 Health Risk Likely pathogenic —
RS2136123010 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2136123555 HPS1 Health Risk Pathogenic —
RS2136125267 IPO8 Health Risk Pathogenic VISS syndrome, VISS syndrome
RS2136125277 IPO8 Health Risk Pathogenic IPO8 related Connective tissue disorder, IPO8 related Connective tissue disorder
RS2136127817 IPO8 Health Risk Pathogenic IPO8-related aortopathy, IPO8-related aortopathy
RS2136128705 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2136129231 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136129852 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2136129908 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136130282 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136131958 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136132184 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136132542 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
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