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
RS796053220 SCN8A Health Risk Pathogenic Seizures, benign familial infantile
RS796053223 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053224 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS796053227 SCN8A Health Risk Conflicting classifications of pathogenicity SCN8A-related disorder, Early-infantile DEE
RS796053228 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS796053229 SCN8A Health Risk Pathogenic Complex neurodevelopmental disorder, Early-infantile DEE
RS796053233 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053238 SLC25A22 Health Risk Pathogenic —
RS796053242 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053247 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS796053248 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS796053249 SLC2A1 Health Risk Likely pathogenic —
RS796053251 SLC2A1 Health Risk Pathogenic —
RS796053252 SLC2A1 Health Risk Conflicting classifications of pathogenicity See cases, GLUT1 deficiency syndrome 1
RS796053253 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS796053254 SLC2A1 Health Risk Pathogenic/Likely pathogenic Dystonia 9, GLUT1 deficiency syndrome 1
RS796053255 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS796053263 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS796053264 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS796053265 SLC2A1 Health Risk Pathogenic —
RS796053266 SLC2A1 Health Risk Pathogenic —
RS796053267 SLC2A1 Health Risk Pathogenic —
RS796053268 SLC2A1 Health Risk Pathogenic —
RS796053269 SLC2A1 Health Risk Pathogenic —
RS796053270 SLC2A1 Health Risk Pathogenic —
RS796053271 SLC2A1 Health Risk Pathogenic —
RS796053272 SLC2A1 Health Risk Pathogenic Dystonia 9, Epilepsy
RS796053283 SLC9A6 Health Risk Pathogenic/Likely pathogenic —
RS796053284 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS796053290 SLC9A6 Health Risk Pathogenic Christianson syndrome, Intellectual disability
RS796053291 SLC9A6 Health Risk Pathogenic —
RS796053293 SLC9A6 Health Risk Pathogenic —
RS796053297 SLC9A6 Health Risk Pathogenic —
RS796053298 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS796053300 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053301 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053304 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053305 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053306 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053315 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS796053320 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS796053322 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS796053323 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS796053327 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS796053329 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS796053332 SPTAN1 Health Risk Likely pathogenic —
RS796053334 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS796053335 SPTAN1 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS796053350 STXBP1 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053351 STXBP1 Health Risk Pathogenic —
RS796053352 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Early-infantile DEE
RS796053353 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053354 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053355 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053356 STXBP1 Health Risk Conflicting classifications of pathogenicity Autism, Photosensitive tonic-clonic seizure
RS796053357 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053359 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS796053361 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS796053362 STXBP1 Health Risk Pathogenic —
RS796053364 STXBP1 Health Risk Pathogenic —
RS796053365 STXBP1 Health Risk Pathogenic/Likely pathogenic Infantile epilepsy syndrome, Developmental and epileptic encephalopathy
RS796053366 STXBP1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS796053367 STXBP1 Health Risk Likely pathogenic Epileptic encephalopathy, Infantile epilepsy syndrome
RS796053368 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053370 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053372 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053373 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS796053374 STXBP1 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS796053376 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053377 STXBP1 Health Risk Pathogenic STXBP1-associated neurodevelopmental disorder, Infantile epilepsy syndrome
RS796053378 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796053379 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS796053380 STXBP1 Health Risk Pathogenic —
RS796053382 STXBP1 Health Risk Pathogenic —
RS796053383 STXBP1 Health Risk Pathogenic —
RS796053384 STXBP1 Health Risk Pathogenic —
RS796053385 STXBP1 Health Risk Pathogenic —
RS796053386 STXBP1 Health Risk Pathogenic —
RS796053390 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053391 STXBP1 Health Risk Pathogenic —
RS796053392 STXBP1 Health Risk Pathogenic —
RS796053393 STXBP1 Health Risk Pathogenic —
RS796053403 TBC1D24 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS796053407 TBC1D24 Health Risk Pathogenic —
RS796053418 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS796053419 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS796053424 TCF4 Health Risk Pathogenic —
RS796053425 TCF4 Health Risk Pathogenic —
RS796053427 TCF4 Health Risk Pathogenic —
RS796053428 TCF4 Health Risk Pathogenic —
RS796053429 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS796053439 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS796053440 TPP1 Health Risk Likely pathogenic —
RS796053447 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053448 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053450 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053451 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053452 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053456 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS796053457 TSC1 Health Risk Likely pathogenic —
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