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
RS386834015 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834016 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834017 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS386834018 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834019 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834020 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834021 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834022 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS386834023 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834024 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Retinitis pigmentosa 76
RS386834025 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS386834026 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834027 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834028 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834029 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834031 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834032 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS386834033 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834034 POMGNT1 Health Risk Pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS386834035 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS386834036 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS386834037 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscle eye brain disease
RS386834038 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS386834039 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS386834040 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy
RS386834041 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS386834042 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS386834043 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS386834044 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS386834045 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS386834046 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS386834047 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS386834048 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS386834049 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS386834050 MKS1 Health Risk Pathogenic Meckel syndrome, type 1
RS386834051 MKS1 Health Risk Pathogenic Meckel syndrome, type 1
RS386834052 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS386834053 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS386834054 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834055 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834056 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834057 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834058 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834059 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834060 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834061 VPS13B Health Risk Pathogenic Cohen syndrome, 9 conditions
RS386834062 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834063 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834064 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834065 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834066 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS386834067 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834068 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS386834069 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834070 VPS13B Health Risk Pathogenic Cohen syndrome, 8 conditions
RS386834071 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834072 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834073 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834074 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834075 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834076 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834077 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834078 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834079 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834080 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS386834081 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834082 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834083 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834084 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834085 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834086 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834087 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834089 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834090 VPS13B Health Risk Pathogenic Cohen syndrome, Inborn genetic diseases
RS386834091 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834093 VPS13B Health Risk Pathogenic Cohen syndrome, Inborn genetic diseases
RS386834094 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834095 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834096 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834097 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834098 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834099 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834100 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834101 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834102 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834103 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834105 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834106 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834107 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834108 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834109 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834110 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834111 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834112 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834113 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834114 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834115 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS386834116 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834117 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834119 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
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