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
RS80358155 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358157 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358158 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS80358162 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358163 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358164 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358165 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS80358166 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358170 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358171 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358172 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358173 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358176 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358179 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS80358181 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS80358182 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358189 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358191 COL8A2 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS80358192 COL8A2 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS80358193 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS80358194 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS80358195 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS80358196 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS80358197 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS80358198 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS80358199 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS80358200 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS80358201 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS80358203 GJA8 Health Risk Likely pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS80358204 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS80358205 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS80358206 GJB4 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
RS80358207 GJB4 Health Risk Likely pathogenic Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
RS80358210 GJB4 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
RS80358211 GJB4 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
RS80358213 GJB4 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 2
RS80358214 GLUL Health Risk Pathogenic Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS80358215 GLUL Health Risk Pathogenic Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS80358216 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS80358217 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia
RS80358218 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS80358219 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS80358220 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia
RS80358221 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia
RS80358223 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS80358224 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS80358225 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS80358226 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS80358227 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS80358228 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS80358229 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS80358230 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, SLC2A10-related disorder
RS80358231 MRAP Health Risk Pathogenic Glucocorticoid deficiency 2, Glucocorticoid deficiency 1
RS80358232 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS80358233 TOR1A Health Risk Pathogenic/Likely pathogenic Early-onset generalized limb-onset dystonia, Dystonic disorder
RS80358236 FASLG Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
RS80358239 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Hypomyelination and Congenital Cataract
RS80358241 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS80358242 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS80358243 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Macrocephaly
RS80358245 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS80358247 TPM3 Health Risk Pathogenic Congenital myopathy 4B, autosomal recessive
RS80358248 TPM3 Health Risk Pathogenic Congenital myopathy 4B, autosomal recessive
RS80358249 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS80358250 CFL2 Health Risk Pathogenic Nemaline myopathy 7, Nemaline myopathy 7
RS80358251 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS80358252 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS80358253 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS80358254 NPC1 Health Risk Pathogenic Niemann-Pick disease, type D
RS80358257 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS80358258 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS80358259 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS80358260 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS80358262 NPC2 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
RS80358263 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS80358264 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS80358265 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS80358266 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS80358267 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS80358268 NPC2 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
RS80358269 KCNQ4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS80358271 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS80358272 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS80358273 KCNQ4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2A, KCNQ4-related disorder
RS80358276 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS80358277 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Rare genetic deafness
RS80358278 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS80358279 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS80358282 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Retinal dystrophy
RS80358284 FZD4 Health Risk Pathogenic Coats disease, Familial exudative vitreoretinopathy
RS80358285 FZD4 Health Risk Likely pathogenic —
RS80358289 FZD4 Health Risk Pathogenic —
RS80358290 FZD4 Health Risk Pathogenic —
RS80358292 FZD4 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS80358294 FZD4 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy
RS80358295 FZD4 Health Risk Pathogenic/Likely pathogenic Coats disease, Familial exudative vitreoretinopathy
RS80358296 FZD4 Health Risk Pathogenic —
RS80358299 FZD4 Health Risk Pathogenic/Likely pathogenic —
RS80358301 FZD4 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS80358302 FZD4 Health Risk Pathogenic —
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