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
RS132630276 WAS Health Risk Pathogenic THROMBOCYTOPENIA, X-LINKED
RS132630277 TAFAZZIN Health Risk Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder
RS132630278 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630279 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630280 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630281 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630282 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630284 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630285 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630286 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, connatal
RS132630288 PLP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS132630289 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630290 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, mild
RS132630291 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS132630292 PLP1 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, atypical
RS132630293 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, connatal
RS132630294 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS132630295 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS132630296 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS132630297 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Intellectual disability
RS132630298 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS132630299 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS132630300 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Hereditary spastic paraplegia 4
RS132630301 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS132630302 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS132630303 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS132630304 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Centronuclear myopathy
RS132630305 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS132630306 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Centronuclear myopathy
RS132630307 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS132630308 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS132630309 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS132630310 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS132630311 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS132630312 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS132630313 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS132630314 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS132630315 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS132630316 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS132630317 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS132630318 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS132630319 EDA Health Risk Pathogenic Tooth agenesis, selective
RS132630320 EDA Health Risk Pathogenic Tooth agenesis, selective
RS132630321 EDA Health Risk Pathogenic Tooth agenesis, selective
RS132630322 NHS Health Risk Pathogenic Nance-Horan syndrome, Cataract 40
RS132630323 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS132630324 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS132630325 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS132630326 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS132630327 NR0B1 Health Risk Pathogenic Mineralocorticoid deficiency, isolated
RS132630328 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS132630329 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS132630330 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS132630331 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS1326313565 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS1326321652 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1326330706 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1326332740 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1326359185 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1326361967 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1326370032 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1326382443 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1326389765 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1326401124 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1326401609 MAP2K1 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous syndrome 3
RS1326405747 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1326410920 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1326427792 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1326445668 SLC12A2 Health Risk Likely pathogenic Kilquist syndrome, Kilquist syndrome
RS1326450802 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS1326459816 LRP5 Health Risk Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1326475927 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS1326483413 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS1326513178 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1326514987 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1326526453 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1326535455 BUB1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
RS1326546845 EYS Health Risk Pathogenic —
RS1326550771 COL2A1 Health Risk Likely pathogenic —
RS1326573780 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1326601709 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS1326604025 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1326606159 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1326623899 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1326631351 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1326635278 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS1326644602 SMOC1 Health Risk Likely pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS1326644714 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1326646197 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS13266634 SLC30A8 Health Risk Benign; risk factor Diabetes mellitus type 2, susceptibility to
RS1326680081 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1326688256 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1326692199 PCDH15 Health Risk Pathogenic —
RS1326693946 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1326705217 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1326712142 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1326731095 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1326735946 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1326745383 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1326764043 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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