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
RS2507583743 ZNF469 Health Risk Pathogenic —
RS2507584642 ZNF469 Health Risk Pathogenic —
RS2507584919 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS2507585527 ZNF469 Health Risk Pathogenic —
RS2507585886 ZNF469 Health Risk Pathogenic —
RS2507586692 ZNF469 Health Risk Pathogenic —
RS2507587176 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS2507588285 ZNF469 Health Risk Pathogenic —
RS2507588380 ZNF469 Health Risk Pathogenic —
RS2507588444 ZNF469 Health Risk Pathogenic —
RS2507588914 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2507589187 ZNF469 Health Risk Pathogenic —
RS2507589689 ZNF469 Health Risk Pathogenic —
RS2507589736 ZNF469 Health Risk Pathogenic —
RS2507590369 ZNF469 Health Risk Pathogenic —
RS2507590403 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS2507590620 ZNF469 Health Risk Pathogenic —
RS2507591028 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS2507592045 ZNF469 Health Risk Pathogenic —
RS2507592471 ZNF469 Health Risk Pathogenic —
RS2507592636 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2507593310 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Nonarteritic anterior ischemic optic neuropathy
RS2507593916 GP1BA Health Risk Likely pathogenic Bernard-Soulier syndrome, type A1
RS2507593936 STRC Health Risk Likely pathogenic STRC-related disorder, STRC-related disorder
RS2507594138 ZNF469 Health Risk Pathogenic —
RS2507594247 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2507594334 ZNF469 Health Risk Pathogenic —
RS2507594973 ZNF469 Health Risk Pathogenic —
RS2507595200 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2507595241 ZNF469 Health Risk Pathogenic —
RS2507595775 STRC Health Risk Likely pathogenic STRC-related disorder, STRC-related disorder
RS2507595797 STRC Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS2507595819 STRC Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS2507596154 ZNF469 Health Risk Pathogenic —
RS2507596437 ZNF469 Health Risk Pathogenic —
RS2507597158 ZNF469 Health Risk Pathogenic —
RS2507597777 ZNF469 Health Risk Likely pathogenic —
RS2507597837 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS2507597886 STRC Health Risk Likely pathogenic STRC-related disorder, STRC-related disorder
RS2507598029 ZNF469 Health Risk Pathogenic —
RS2507598165 ZNF469 Health Risk Pathogenic —
RS2507598343 ZNF469 Health Risk Pathogenic —
RS2507599463 ZNF469 Health Risk Pathogenic/Likely pathogenic —
RS2507599497 ZNF469 Health Risk Pathogenic —
RS2507600316 ZNF469 Health Risk Pathogenic —
RS2507601279 ZNF469 Health Risk Pathogenic —
RS2507602020 ZNF469 Health Risk Pathogenic —
RS2507602463 ZNF469 Health Risk Pathogenic —
RS2507605413 ZNF469 Health Risk Pathogenic —
RS2507606626 ZNF469 Health Risk Pathogenic —
RS2507609479 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2507610571 CTNS Health Risk Pathogenic Ocular cystinosis, Ocular cystinosis
RS2507616467 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS2507618267 SLC38A8 Health Risk Pathogenic —
RS2507623414 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507630439 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2507631270 SLC38A8 Health Risk Likely pathogenic —
RS2507631298 SLC38A8 Health Risk Pathogenic —
RS2507631710 SLC38A8 Health Risk Likely pathogenic —
RS2507632091 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2507633880 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507641936 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2507642161 IFT140 Health Risk Likely pathogenic IFT140-related disorder, IFT140-related disorder
RS2507654719 SLC38A8 Health Risk Pathogenic —
RS2507655460 MAF Health Risk Likely pathogenic MAF-related disorder, MAF-related disorder
RS2507659020 SLC38A8 Health Risk Likely pathogenic —
RS2507659253 SLC38A8 Health Risk Pathogenic —
RS2507659781 SLC38A8 Health Risk Pathogenic —
RS2507659879 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507659939 SLC38A8 Health Risk Pathogenic —
RS2507661713 GCSH Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7
RS2507661763 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507661980 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507662681 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507662705 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507662751 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507663847 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507664082 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507664240 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507666683 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507666710 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507666723 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507666838 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507666862 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507666982 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507667622 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507668196 SLC38A8 Health Risk Pathogenic —
RS2507668346 SLC38A8 Health Risk Pathogenic —
RS2507668848 SLC38A8 Health Risk Pathogenic —
RS2507668893 SLC38A8 Health Risk Pathogenic —
RS2507668899 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507669361 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507669416 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507672161 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507672211 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507672235 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507673070 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507673107 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2507679454 GCSH Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7
RS2507681732 SLC38A8 Health Risk Pathogenic —
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