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
RS2507528036 CYBA Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS2507529918 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2507533269 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2507533282 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2507533402 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2507538508 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS2507539355 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507540629 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507541023 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507541256 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS2507541496 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2507541545 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507541644 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS2507541898 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507542040 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507542090 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507543360 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4B
RS2507543657 CHRNE Health Risk Likely pathogenic —
RS2507543742 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507543793 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507543906 CHRNE Health Risk Pathogenic —
RS2507544005 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507544168 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507544221 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507552992 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553027 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553073 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553104 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553112 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553289 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553534 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507553591 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507554064 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507554331 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507554748 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507554908 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507555113 CHRNE Health Risk Likely pathogenic —
RS2507555301 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507555321 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507556167 KARS1 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS2507556876 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS2507556956 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507557171 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507557254 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2507557272 PARN Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2507557395 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507557511 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507557553 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507557604 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507558889 KARS1 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, progressive
RS2507560031 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507560177 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507560224 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507560277 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507560440 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507560739 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507560746 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507561395 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507561424 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507561429 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507561549 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507561650 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507562549 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507562564 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507562598 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS2507562677 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS2507562728 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507563794 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507563979 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507565075 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507565283 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2507569796 ZNF469 Health Risk Pathogenic —
RS2507569825 ZNF469 Health Risk Pathogenic —
RS2507569998 ZNF469 Health Risk Pathogenic —
RS2507570059 ZNF469 Health Risk Pathogenic —
RS2507570117 ZNF469 Health Risk Pathogenic —
RS2507570751 ZNF469 Health Risk Pathogenic —
RS2507570767 ZNF469 Health Risk Pathogenic —
RS2507571255 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2507571459 ZNF469 Health Risk Pathogenic —
RS2507571642 ZFHX3 Health Risk Pathogenic —
RS2507571809 ZNF469 Health Risk Pathogenic —
RS2507571828 ZNF469 Health Risk Pathogenic —
RS2507572374 ZNF469 Health Risk Pathogenic —
RS2507572620 ZNF469 Health Risk Pathogenic —
RS2507572753 ZNF469 Health Risk Pathogenic —
RS2507576747 ZNF469 Health Risk Pathogenic —
RS2507576803 ZNF469 Health Risk Pathogenic —
RS2507577344 ZNF469 Health Risk Pathogenic —
RS2507577602 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2507577800 ZNF469 Health Risk Pathogenic —
RS2507577853 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2507578316 ZNF469 Health Risk Pathogenic —
RS2507578417 ZNF469 Health Risk Pathogenic —
RS2507580211 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS2507581312 ZNF469 Health Risk Pathogenic —
RS2507581603 ZNF469 Health Risk Pathogenic —
RS2507581694 ZNF469 Health Risk Pathogenic —
RS2507582702 ZNF469 Health Risk Pathogenic —
RS2507583248 ZNF469 Health Risk Pathogenic —
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