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
RS202247806 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS202247807 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS202247811 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS202247812 KRAS Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS202247814 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS202247815 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS202247818 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS202247819 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS202247820 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS202247821 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS202247822 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS202247823 PCCB Health Risk Pathogenic Propionic acidemia, PCCB-related disorder
RS2022547761 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2022549661 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2022550603 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2022588840 MCOLN1 Health Risk Pathogenic Lisch epithelial corneal dystrophy, Mucolipidosis type IV
RS2022601213 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2022607233 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2022615978 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS2022699936 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS2022862975 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2023146719 CLCNKB Health Risk Pathogenic/Likely pathogenic —
RS2023204790 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2023231095 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2023573141 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2023624083 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2023694204 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023710111 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023718817 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023743942 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023745479 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023782686 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023783146 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023804275 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023809176 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023809731 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023847365 PNPLA6 Health Risk Likely pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS2023851530 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023852354 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023853280 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023854692 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023856348 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023921392 PNPLA6 Health Risk Likely pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS2023939487 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023968144 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023968643 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023979174 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023994157 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023994563 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2023996617 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024014272 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024015975 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024019978 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024020274 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024027294 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024028589 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024064953 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2024078763 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS2024151949 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024155693 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024189461 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Inborn genetic diseases
RS2024192356 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024205685 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024208039 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024210372 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024217430 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024217585 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024217737 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024226065 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2024251717 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2024315415 WDR83OS Health Risk Pathogenic Hypercholanemia, familial
RS2024330843 DOT1L Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2024441691 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS2024442390 EPHA2 Health Risk Pathogenic —
RS2025018868 AMH Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS2025577400 MYO5B Health Risk Pathogenic —
RS2025722754 MYO5B Health Risk Pathogenic DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS
RS2025724709 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2025943800 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS2029867406 CRTAP Health Risk Likely pathogenic —
RS2029895356 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS2030102410 LMX1B Health Risk Pathogenic —
RS2030153941 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS2030200763 LMX1B Health Risk Pathogenic/Likely pathogenic LMX1B-related disorder, Inborn genetic diseases
RS2030220818 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS2030231685 TTLL5 Health Risk Pathogenic —
RS2030237603 TTLL5 Health Risk Pathogenic —
RS2030268600 OCA2 Health Risk Pathogenic —
RS2030318562 SMARCB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 15
RS2030323020 AIFM1 Health Risk Likely pathogenic Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS2030326799 AIFM1 Health Risk Conflicting classifications of pathogenicity AIFM1-related disorder, Inborn genetic diseases
RS2030331202 SMARCB1 Health Risk Likely pathogenic Coffin-Siris syndrome, Hereditary cancer-predisposing syndrome
RS2030333357 ACE Health Risk Pathogenic —
RS2030404834 TUBB3 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2030410834 TUBB3 Health Risk Conflicting classifications of pathogenicity TUBB3-related tubulinopathy, TUBB3-related tubulinopathy
RS2030416703 TUBB3 Health Risk Likely pathogenic TUBB3-related disorder, TUBB3-related disorder
RS2030417656 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2030421919 TUBB3 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2030427823 TUBB3 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2030438427 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
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