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
RS878853151 KDM5C Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853152 CUL4B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS878853153 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS878853154 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS878853157 PDE8B Health Risk Pathogenic Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS878853158 PDE8B Health Risk Likely pathogenic Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS878853159 ACTN4 Health Risk Pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS878853160 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS878853161 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS878853162 TUBB Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS878853163 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS878853164 KMT5B Health Risk Likely pathogenic —
RS878853165 MAST1 Health Risk Conflicting classifications of pathogenicity Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
RS878853167 WDFY3 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS878853169 NBEA Health Risk Pathogenic/Likely pathogenic —
RS878853170 DSC2 Health Risk Pathogenic ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL
RS878853171 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS878853172 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS878853173 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS878853174 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS878853175 ITPR1 Health Risk Pathogenic Gillespie syndrome, Inborn genetic diseases
RS878853176 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS878853177 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS878853178 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS878853217 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS878853218 ACP5 Health Risk Pathogenic/Likely pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS878853221 CNTNAP1 Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS878853222 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS878853223 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS878853224 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS878853225 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS878853226 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS878853227 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878853228 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878853229 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS878853230 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS878853231 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS878853232 TBC1D24 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 86, Autosomal recessive nonsyndromic hearing loss 86
RS878853233 USH2A Health Risk Pathogenic Nonsyndromic genetic hearing loss, Usher syndrome type 2A
RS878853234 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS878853235 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS878853236 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS878853238 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878853239 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878853242 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS878853243 TSPAN12 Health Risk Pathogenic Atrophia bulborum hereditaria, Exudative vitreoretinopathy 5
RS878853244 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS878853245 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS878853246 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS878853247 STK11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878853248 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS878853249 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS878853250 SCN8A Health Risk Pathogenic 6 conditions, Early-infantile DEE
RS878853251 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS878853252 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS878853253 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS878853255 NECTIN1 Health Risk Pathogenic Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS878853256 TUBB3 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS878853257 TUBB3 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS878853258 TUBB3 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS878853259 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS878853260 PARN Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS878853261 ORAI1 Health Risk Pathogenic Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency
RS878853262 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS878853263 NAA10 Health Risk Pathogenic Ogden syndrome, Ogden syndrome
RS878853264 NAA10 Health Risk Pathogenic/Likely pathogenic Ogden syndrome, Intellectual disability
RS878853265 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878853267 NANS Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS878853269 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS878853270 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS878853271 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS878853274 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS878853275 ATP6AP1 Health Risk Pathogenic Immunodeficiency 47, Immunodeficiency 47
RS878853276 ATP6AP1 Health Risk Pathogenic Immunodeficiency 47, Immunodeficiency 47
RS878853277 ATP6AP1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 47, Immunodeficiency 47
RS878853278 ATP6AP1 Health Risk Pathogenic Immunodeficiency 47, Immunodeficiency 47
RS878853279 TUBB3 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS878853280 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS878853281 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS878853282 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS878853283 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS878853284 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS878853285 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853286 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853287 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS878853288 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853289 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853290 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853292 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853293 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853294 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS878853296 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853297 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS878853298 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853299 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853301 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853302 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853303 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853304 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS878853312 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
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