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
RS281865153 ALX4 Health Risk risk factor Craniosynostosis 5, susceptibility to
RS281865154 ALX4 Health Risk risk factor Craniosynostosis 5, susceptibility to
RS281865157 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS281865159 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS281865160 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS281865161 APP Health Risk Pathogenic Alzheimer disease type 1, Alzheimer disease
RS281865163 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865165 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865166 TULP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 14, Leber congenital amaurosis 15
RS281865168 TULP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 14, Leber congenital amaurosis 15
RS281865171 TULP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS281865173 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS281865174 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS281865175 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS281865177 GPR143 Health Risk Pathogenic —
RS281865178 GPR143 Health Risk Likely pathogenic Ocular albinism, type I
RS281865179 GPR143 Health Risk Likely pathogenic —
RS281865181 GPR143 Health Risk Likely pathogenic —
RS281865182 GPR143 Health Risk Pathogenic —
RS281865183 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS281865184 GPR143 Health Risk Pathogenic/Likely pathogenic Ocular albinism, type I
RS281865186 GRM6 Health Risk Pathogenic Congenital stationary night blindness 1B, GRM6-related disorder
RS281865187 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS281865188 CEP290 Health Risk Pathogenic Retinitis pigmentosa, Nephronophthisis
RS281865189 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS281865190 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS281865192 CEP290 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 10, Retinitis pigmentosa
RS281865194 NYX Health Risk Pathogenic Retinal dystrophy, Congenital stationary night blindness 1A
RS281865195 AIPL1 Health Risk Conflicting classifications of pathogenicity Juvenile retinitis pigmentosa, AIPL1-related
RS281865198 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS281865204 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS281865205 BEST1 Health Risk Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS281865206 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865207 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS281865208 BEST1 Health Risk Likely pathogenic —
RS281865209 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Autosomal recessive bestrophinopathy
RS281865210 BEST1 Health Risk Pathogenic —
RS281865211 BEST1 Health Risk Likely pathogenic —
RS281865212 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS281865213 BEST1 Health Risk Pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS281865214 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS281865215 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy
RS281865216 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865217 BEST1 Health Risk Pathogenic —
RS281865218 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS281865221 BEST1 Health Risk Pathogenic Retinal dystrophy, BEST1-related disorder
RS281865223 BEST1 Health Risk Pathogenic —
RS281865224 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865225 BEST1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS281865226 BEST1 Health Risk Pathogenic —
RS281865227 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865228 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865229 BEST1 Health Risk Conflicting classifications of pathogenicity —
RS281865230 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865231 BEST1 Health Risk Pathogenic —
RS281865233 BEST1 Health Risk Pathogenic —
RS281865234 BEST1 Health Risk Likely pathogenic —
RS281865236 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865238 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS281865239 BEST1 Health Risk Likely pathogenic Macular dystrophy, Vitelliform macular dystrophy 2
RS281865240 BEST1 Health Risk Pathogenic —
RS281865241 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS281865242 BEST1 Health Risk Likely pathogenic —
RS281865243 BEST1 Health Risk Pathogenic —
RS281865244 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865245 BEST1 Health Risk Pathogenic —
RS281865246 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865247 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865250 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865251 BEST1 Health Risk Likely pathogenic Retinal disorder, Retinal disorder
RS281865253 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS281865254 BEST1 Health Risk Pathogenic —
RS281865255 BEST1 Health Risk Pathogenic Macular dystrophy, Vitelliform macular dystrophy 2
RS281865257 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865258 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865259 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS281865260 BEST1 Health Risk Likely pathogenic —
RS281865261 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865262 BEST1 Health Risk Pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS281865263 BEST1 Health Risk Pathogenic BEST1-related disorder, Vitelliform macular dystrophy 2
RS281865264 BEST1 Health Risk Pathogenic —
RS281865265 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal disorder
RS281865266 BEST1 Health Risk Pathogenic —
RS281865267 BEST1 Health Risk Pathogenic —
RS281865268 BEST1 Health Risk Likely pathogenic —
RS281865269 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865271 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865273 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS281865277 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865285 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS281865286 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS281865288 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS281865289 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS281865292 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS281865295 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS281865296 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS281865297 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, Retinal dystrophy
RS281865301 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS281865302 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS281865304 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
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