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
RS1057519143 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS1057519145 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057519146 CYP2U1 Health Risk Likely pathogenic —
RS1057519148 TNC Health Risk Likely pathogenic —
RS1057519149 KMT2A Health Risk Likely pathogenic —
RS1057519150 TECTA Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1057519152 MEGF10 Health Risk Likely pathogenic —
RS1057519155 PLEC Health Risk Likely pathogenic —
RS1057519157 SYNE1 Health Risk Likely pathogenic —
RS1057519160 TTN Health Risk Likely pathogenic —
RS1057519162 CRB1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Optic atrophy
RS1057519164 KIF1A Health Risk Pathogenic —
RS1057519165 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1057519166 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1057519167 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057519168 ACVRL1 Health Risk Likely pathogenic —
RS1057519169 ERBB3 Health Risk Likely pathogenic —
RS1057519172 ERLIN2 Health Risk Pathogenic —
RS1057519173 RYR1 Health Risk Likely pathogenic —
RS1057519174 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, COL6A1-related disorder
RS1057519179 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057519180 DMD Health Risk Likely pathogenic —
RS1057519181 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Inborn genetic diseases
RS1057519182 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057519183 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1057519188 FIG4 Health Risk Likely pathogenic See cases, See cases
RS1057519189 STXBP1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519190 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS1057519191 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS1057519193 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1057519195 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS1057519197 CACNA1A Health Risk Likely pathogenic —
RS1057519200 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1057519201 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1057519205 RIMS1 Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1057519208 USH2A Health Risk Likely pathogenic —
RS1057519210 SCN8A Health Risk Pathogenic/Likely pathogenic —
RS1057519212 HSD17B4 Health Risk Likely pathogenic —
RS1057519213 SETX Health Risk Likely pathogenic —
RS1057519216 MECP2 Health Risk Likely pathogenic —
RS1057519220 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057519221 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1057519223 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1057519225 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1057519228 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1057519229 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1057519232 COG7 Health Risk Likely pathogenic —
RS1057519234 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057519236 RPGR Health Risk Likely pathogenic —
RS1057519237 TTN Health Risk Likely pathogenic —
RS1057519240 KIF1A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1057519242 NPC1 Health Risk Likely pathogenic —
RS1057519244 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1057519246 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1057519247 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057519248 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057519249 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1057519251 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1057519256 POLE Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS1057519261 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1057519262 CAD Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 50
RS1057519263 EPHB4 Health Risk Pathogenic Lymphatic malformation 7, Lymphatic malformation 7
RS1057519264 EPHB4 Health Risk Pathogenic Lymphatic malformation 7, Lymphatic malformation 7
RS1057519265 ZNF148 Health Risk Pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1057519266 ZNF148 Health Risk Pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1057519267 ZNF148 Health Risk Pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1057519268 ZNF148 Health Risk Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1057519269 AP3B2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 48
RS1057519270 AP3B2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 48
RS1057519271 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS1057519272 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS1057519273 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS1057519274 HCN4 Health Risk Pathogenic Sick sinus syndrome 2, autosomal dominant
RS1057519275 HCN4 Health Risk Pathogenic/Likely pathogenic Sick sinus syndrome 2, autosomal dominant
RS1057519276 HCN4 Health Risk Pathogenic Sick sinus syndrome 2, autosomal dominant
RS1057519277 ACP4 Health Risk Pathogenic Amelogenesis imperfecta, type 1J
RS1057519278 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1057519279 KMT2B Health Risk Pathogenic/Likely pathogenic Dystonia 28, childhood-onset
RS1057519280 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1057519281 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1057519282 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1057519283 KMT2B Health Risk Pathogenic/Likely pathogenic Dystonia 28, childhood-onset
RS1057519284 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1057519285 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS1057519286 MECR Health Risk Pathogenic Dystonia, childhood-onset
RS1057519287 MECR Health Risk Pathogenic Dystonia, childhood-onset
RS1057519288 GREM2 Health Risk Pathogenic Tooth agenesis, selective
RS1057519289 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS1057519290 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78
RS1057519291 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78
RS1057519292 ATP13A2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS1057519293 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS1057519294 SLC25A46 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1E
RS1057519295 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1057519296 SLC25A46 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1E
RS1057519297 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS1057519299 RMND1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS1057519300 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
RS1057519301 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
RS1057519302 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
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