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
RS386834120 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834121 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834122 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS386834123 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834124 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS386834125 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834126 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834128 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834130 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS386834131 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834132 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS386834133 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834134 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS386834135 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834138 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS386834139 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834140 TREM2 Health Risk Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS386834141 TREM2 Health Risk Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS386834142 TREM2 Health Risk Pathogenic/Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS386834143 TREM2 Health Risk Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS386834144 TREM2 Health Risk Pathogenic/Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS386834146 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS386834148 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS386834149 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 4
RS386834150 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 4
RS386834151 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS386834152 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS386834153 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 4
RS386834155 CEP290 Health Risk Likely pathogenic Meckel syndrome, type 4
RS386834156 CEP290 Health Risk Likely pathogenic Meckel syndrome, type 4
RS386834157 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS386834158 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS386834159 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS386834160 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834161 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834162 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834163 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834164 AMN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834165 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834167 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834168 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome
RS386834169 AMN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
RS386834170 AMN;CDC42BPB;LOC130056553 Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome
RS386834171 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834172 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834173 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834174 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834175 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834176 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834177 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS386834178 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834179 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386834180 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834181 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834182 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834183 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 3
RS386834185 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS386834186 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834187 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834188 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834190 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834191 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834192 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 3
RS386834193 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 3
RS386834194 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS386834195 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834196 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834197 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834198 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834199 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834200 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834201 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS386834202 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834203 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS386834204 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834205 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS386834206 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834207 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS386834208 TMEM67 Health Risk Likely pathogenic Meckel syndrome, type 3
RS386834226 F5 Health Risk Pathogenic —
RS386834227 F5 Health Risk Pathogenic —
RS386834230 ALDH1A3 Health Risk Pathogenic —
RS386834233 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS386834234 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS386834235 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS386834236 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS386834239 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Early-onset retinal dystrophy
RS386834241 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS386834243 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Retinitis pigmentosa 94
RS386834252 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis
RS386834253 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS386834260 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS386834261 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Retinal dystrophy
RS386834263 CACNA1D Health Risk Likely pathogenic —
RS386834264 CACNA1D Health Risk Pathogenic Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS387906217 ABHD12 Health Risk Pathogenic —
RS387906218 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Senior-Loken syndrome 7
RS387906219 TPRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS387906220 TPRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS387906221 TPRN Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 79, Rare genetic deafness
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