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
RS2135849163 MYRF Health Risk Likely pathogenic —
RS2135850957 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS2135851223 HNF1A Health Risk Pathogenic —
RS2135851518 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135851715 HNF1A Health Risk Likely pathogenic HNF1A-related disorder, HNF1A-related disorder
RS2135854397 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135854451 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS2135854461 HNF1A Health Risk Likely pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
RS2135854520 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135854597 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135854670 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135856266 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2135856711 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2135856808 MYRF Health Risk Likely pathogenic MYRF-related disorder, MYRF-related disorder
RS2135857103 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135861085 MYRF Health Risk Likely pathogenic —
RS2135861273 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135861602 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135861836 PTPN11 Health Risk Likely pathogenic —
RS2135861869 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135862010 PTPN11 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2135862367 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2135862582 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135866639 SUFU Health Risk Pathogenic Oculomotor apraxia, Oculomotor apraxia
RS2135866938 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2135867122 SUFU Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2135867131 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135867295 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135867567 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2135870609 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135870923 SUFU Health Risk Likely pathogenic Medulloblastoma, Gorlin syndrome
RS2135870931 SUFU Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135879026 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2135879573 ATP6V0A2 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2135879752 ATP6V0A2 Health Risk Pathogenic —
RS2135880243 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata type 5
RS2135881899 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135882176 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS2135882212 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135882232 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135882474 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS2135886253 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2135887401 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2135887733 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135888102 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135888594 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135889203 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135889249 SUFU Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2135889257 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135890847 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135891669 ATM Health Risk Pathogenic Malignant tumor of urinary bladder, Familial cancer of breast
RS2135892447 SOX5 Health Risk Conflicting classifications of pathogenicity —
RS2135892544 KIF11 Health Risk Pathogenic/Likely pathogenic —
RS2135893101 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135893222 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135893427 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135894892 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2135897895 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2135900558 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135900803 KIF11 Health Risk Pathogenic —
RS2135901005 PTPN11 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 1, Noonan syndrome 1
RS2135901128 KIF11 Health Risk Pathogenic —
RS2135901148 KIF11 Health Risk Pathogenic —
RS2135901156 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135901920 PTPN11 Health Risk Likely pathogenic Metachondromatosis, Metachondromatosis
RS2135902166 PTPN11 Health Risk Likely pathogenic Metachondromatosis, Metachondromatosis
RS2135902177 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2135902386 KIF11 Health Risk Pathogenic —
RS2135902414 KIF11 Health Risk Pathogenic —
RS2135902435 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135902897 KIF11 Health Risk Pathogenic —
RS2135902899 KIF11 Health Risk Pathogenic —
RS2135902915 KIF11 Health Risk Pathogenic —
RS2135903791 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135903939 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2135904246 STT3A Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type Iw
RS2135904801 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135904871 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135904903 KIF11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2135904919 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135905068 KIF11 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Microcephaly with or without chorioretinopathy
RS2135907187 KIF11 Health Risk Pathogenic —
RS2135909614 ATP6V0A2 Health Risk Likely pathogenic —
RS2135909683 ATP6V0A2 Health Risk Likely pathogenic —
RS2135911351 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135911500 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135912260 PTPN11 Health Risk Pathogenic —
RS2135912272 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135912697 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS2135912726 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135912935 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2135913350 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135914599 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135914733 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135915213 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS2135915222 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2135915377 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2135916018 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS2135916021 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135916225 KIF11 Health Risk Pathogenic —
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