SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS796051892 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS796051893 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS796051894 AFG2A Health Risk Likely pathogenic —
RS796051895 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS796051896 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS796051901 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS796051902 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS796051905 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS796051906 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS796051908 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS796051909 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS796051912 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS796051913 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS796051914 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS796051916 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS796051917 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS796051923 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS796051924 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS796051925 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS796051931 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS796051932 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS796051933 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Neurodevelopmental disorder
RS796051936 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia
RS796051937 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS796051938 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS796051939 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS796051940 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS796051942 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, neonatal form
RS796051947 DLD Health Risk Likely pathogenic —
RS796051948 DLD Health Risk Likely pathogenic —
RS796051954 ETFB Health Risk Likely pathogenic —
RS796051958 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS796051959 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS796051960 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS796051961 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS796051962 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS796051963 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS796051964 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS796051965 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS796051966 ETFDH Health Risk Likely pathogenic —
RS796051967 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS796051971 HADHA Health Risk Pathogenic/Likely pathogenic See cases, Mitochondrial trifunctional protein deficiency
RS796051972 HADHA Health Risk Likely pathogenic —
RS796051973 HADHA Health Risk Pathogenic —
RS796051974 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
RS796051978 HLCS Health Risk Pathogenic —
RS796051979 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS796051982 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS796051983 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS796051985 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS796051986 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS796051989 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS796051991 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS796051992 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS796051993 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS796051995 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS796051996 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS796051997 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS796051998 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, MMACHC-related disorder
RS796051999 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS796052000 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS796052001 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS796052002 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS796052004 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS796052005 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA
RS796052006 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS796052007 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS796052008 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS796052009 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS796052012 OTC Health Risk Pathogenic —
RS796052013 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS796052014 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS796052015 OTC Health Risk Pathogenic —
RS796052016 OTC Health Risk Pathogenic —
RS796052018 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS796052019 PCCA Health Risk Pathogenic Propionic acidemia, Pontocerebellar hypoplasia type 2D
RS796052021 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS796052022 PCCB Health Risk Pathogenic —
RS796052023 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS796052024 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS796052029 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS796052030 PC Health Risk Pathogenic —
RS796052032 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS796052033 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS796052036 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS796052039 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Carnitine deficiency
RS796052040 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS796052045 SUCLA2 Health Risk Likely pathogenic —
RS796052050 SUCLG1 Health Risk Likely pathogenic —
RS796052051 SUCLG1 Health Risk Likely pathogenic —
RS796052052 SUCLG1 Health Risk Likely pathogenic —
RS796052053 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Inborn genetic diseases
RS796052054 TMEM70 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS796052055 TMEM70 Health Risk Likely pathogenic —
RS796052056 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS796052058 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS796052059 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052060 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS796052061 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS796052062 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
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