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
RS2522410521 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522410806 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522410989 MECR Health Risk Pathogenic —
RS2522412502 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS2522414074 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2522414352 DNALI1 Health Risk Pathogenic Spermatogenic failure 83, Spermatogenic failure 83
RS2522414410 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522414476 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522414777 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522414783 ATP7A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522418687 ZMPSTE24 Health Risk Pathogenic Restrictive dermopathy 1, Restrictive dermopathy 1
RS2522418927 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS2522418950 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522419324 ATP7A Health Risk Likely pathogenic ATP7A-related disorder, ATP7A-related disorder
RS2522419362 ATP7A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522419534 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS2522420841 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS2522420920 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522420993 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522421015 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2522421362 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522425477 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS2522425533 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2522427320 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2522431304 TRIT1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS2522434481 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522434915 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522435283 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522435614 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522436350 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522438796 ZMPSTE24 Health Risk Likely pathogenic —
RS2522443558 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522445049 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522446951 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522446971 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522447420 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522459875 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2522464931 SCO2 Health Risk Likely pathogenic —
RS2522468076 SCO2 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2522468528 SCO2 Health Risk Pathogenic —
RS2522468871 SCO2 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2522469440 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2522470123 SCO2 Health Risk Pathogenic —
RS2522470354 SCO2 Health Risk Pathogenic —
RS2522471224 SCO2 Health Risk Pathogenic —
RS2522472413 SCO2 Health Risk Pathogenic —
RS2522474020 SCO2 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2522474094 SCO2 Health Risk Pathogenic —
RS2522474928 SCO2 Health Risk Pathogenic —
RS2522476219 SCO2 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS2522476324 SCO2 Health Risk Pathogenic —
RS2522477780 SCO2 Health Risk Conflicting classifications of pathogenicity —
RS2522478178 SCO2 Health Risk Pathogenic —
RS2522478733 SCO2 Health Risk Conflicting classifications of pathogenicity Myopia 6, Cardioencephalomyopathy
RS2522483565 COL9A2 Health Risk Pathogenic —
RS2522486103 PHKA1 Health Risk Pathogenic —
RS2522491093 C8A Health Risk Pathogenic —
RS2522493719 AMMECR1 Health Risk Likely pathogenic Midface hypoplasia, hearing impairment
RS2522499933 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2522501407 TYMP Health Risk Pathogenic —
RS2522504977 TYMP Health Risk Pathogenic —
RS2522505701 TYMP Health Risk Pathogenic —
RS2522505747 MECR Health Risk Pathogenic —
RS2522506284 TYMP Health Risk Pathogenic —
RS2522506687 DMD Health Risk Likely pathogenic Proximal muscle weakness, Highly elevated creatine kinase
RS2522507176 TYMP Health Risk Likely pathogenic —
RS2522508735 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2522510658 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522512318 TYMP Health Risk Pathogenic —
RS2522512934 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis 4
RS2522513131 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522513585 DEPDC5 Health Risk Likely pathogenic Autosomal dominant epilepsy, Focal epilepsy
RS2522513640 COL9A2 Health Risk Likely pathogenic COL9A2-related disorder, COL9A2-related disorder
RS2522515810 TYMP Health Risk Likely pathogenic —
RS2522519519 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522525264 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522525606 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2522525853 TYMP Health Risk Pathogenic —
RS2522530428 TYMP Health Risk Pathogenic —
RS2522530917 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522531011 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522531128 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522539460 TYMP Health Risk Pathogenic —
RS2522539725 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522546653 TYMP Health Risk Pathogenic —
RS2522546758 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522546966 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522547175 TYMP Health Risk Pathogenic —
RS2522547504 TYMP Health Risk Pathogenic —
RS2522547664 TYMP Health Risk Pathogenic —
RS2522549333 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS2522549973 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS2522550002 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522550176 TYMP Health Risk Pathogenic —
RS2522550197 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS2522550898 TYMP Health Risk Pathogenic —
RS2522551059 TYMP Health Risk Pathogenic —
RS2522551518 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522551530 TYMP Health Risk Pathogenic —
RS2522551571 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
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