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
RS863225017 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225018 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225019 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS863225020 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS863225021 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS863225022 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases
RS863225023 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS863225024 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS863225025 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS863225026 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS863225027 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type IA
RS863225028 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS863225029 PMP22 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type IA
RS863225030 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS863225031 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS863225032 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS863225033 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS863225034 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS863225035 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS863225036 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS863225037 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS863225038 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS863225041 BMPR1B Health Risk Pathogenic Acromesomelic dysplasia 3, Acromesomelic dysplasia 3
RS863225042 BMPR1B Health Risk Pathogenic Acromesomelic dysplasia 3, Acromesomelic dysplasia 3
RS863225043 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS863225044 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS863225045 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS863225047 LIFR Health Risk Pathogenic/Likely pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS863225048 EIF2B1 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS863225049 EIF2B1 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS863225050 EIF2B1 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS863225051 EIF2B1 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS863225052 EIF2B1 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS863225053 RTEL1 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease 2, Pulmonary fibrosis and/or bone marrow failure
RS863225054 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS863225055 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS863225058 ACAD9 Health Risk Likely pathogenic —
RS863225059 ACAD9 Health Risk Pathogenic —
RS863225060 PIK3CA Health Risk Pathogenic/Likely pathogenic PIK3CA related overgrowth syndrome, Cowden syndrome
RS863225061 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS863225062 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS863225064 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS863225065 CDKL5 Health Risk Pathogenic —
RS863225066 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS863225068 UBE3A Health Risk Pathogenic Angelman syndrome, Epileptic encephalopathy
RS863225070 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS863225072 SLC2A9 Health Risk Pathogenic/Likely pathogenic Hypouricemia, renal
RS863225073 CHAMP1 Health Risk Likely pathogenic —
RS863225074 CHAMP1 Health Risk Pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
RS863225075 CHAMP1 Health Risk Pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
RS863225076 CHAMP1 Health Risk Pathogenic —
RS863225077 CHAMP1 Health Risk Pathogenic CHAMP1-related syndrome, Intellectual disability
RS863225078 CHAMP1 Health Risk Pathogenic —
RS863225079 PPP2R5D Health Risk Pathogenic/Likely pathogenic Hogue-Janssens syndrome 1, Inborn genetic diseases
RS863225080 PPP2R5D Health Risk Pathogenic Inborn genetic diseases, Hogue-Janssens syndrome 1
RS863225081 PPP2R5D Health Risk Pathogenic/Likely pathogenic Hogue-Janssens syndrome 1, PPP2R5D-related disorder
RS863225082 MEA1;PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Inborn genetic diseases
RS863225083 PEX6 Health Risk Pathogenic Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger)
RS863225084 PEX1 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 1, Retinal dystrophy
RS863225085 PEX1 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS863225086 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS863225087 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS863225088 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS863225089 MOGS Health Risk Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS863225090 CACNA1F Health Risk Pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS863225091 RORC Health Risk Pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS863225092 RORC Health Risk Pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS863225093 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS863225094 PPP2R1A Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS863225095 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS863225096 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS863225097 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS863225098 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiomyopathy
RS863225099 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS863225100 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS863225101 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS863225102 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS863225103 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS863225104 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS863225105 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS863225106 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS863225107 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS863225109 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS863225111 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS863225112 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS863225113 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Cardiomyopathy
RS863225114 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS863225117 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS863225119 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS863225120 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy 2
RS863225121 VCL Health Risk Likely pathogenic Hypertrophic cardiomyopathy 15, Hypertrophic cardiomyopathy 15
RS863225122 HARS1 Health Risk Pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W
RS863225123 HARS1 Health Risk Pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W
RS863225124 HARS1 Health Risk Pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W
RS863225125 PDHB Health Risk Pathogenic —
RS863225126 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS863225127 KNL1 Health Risk Pathogenic Microcephaly 4, primary
RS863225128 OCLN Health Risk Likely pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS863225129 RTEL1 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease 2, Dyskeratosis congenita
RS863225130 RTEL1 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Dyskeratosis congenita
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