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
RS2131957828 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131958310 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS2131960043 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131961013 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2131961978 POLR3A Health Risk Pathogenic —
RS2131963896 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131964527 ZMYND11 Health Risk Pathogenic —
RS2131964849 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS2131965369 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131965427 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2131966858 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS2131969031 SPTAN1 Health Risk Likely pathogenic —
RS2131969608 ELP1 Health Risk Likely pathogenic —
RS2131972800 GBA2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2131972870 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Malignant tumor of urinary bladder
RS2131975092 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131975101 ELP1 Health Risk Likely pathogenic —
RS2131976201 RPS24 Health Risk Likely pathogenic Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues
RS2131976643 RPS24 Health Risk Likely pathogenic Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
RS2131977010 ZMYND11 Health Risk Pathogenic —
RS2131978117 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2131979217 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2131980225 ELP1 Health Risk Pathogenic —
RS2131980428 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131981589 ELP1 Health Risk Likely pathogenic —
RS2131982095 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131982810 ANK3 Health Risk Pathogenic ANK3-related disorder, ANK3-related disorder
RS2131982922 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131983329 CUX1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Global developmental delay with or without impaired intellectual development
RS2131984488 ELP1 Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Familial dysautonomia
RS2131985466 CUX1 Health Risk Pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2131985621 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2131988498 ELP1 Health Risk Pathogenic —
RS2131988821 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS2131991331 MYO3A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS2131992124 ELP1 Health Risk Likely pathogenic —
RS2131992501 ELP1 Health Risk Pathogenic —
RS2131996846 ELP1 Health Risk Pathogenic —
RS2132003172 ELP1 Health Risk Pathogenic —
RS2132003711 ELP1 Health Risk Pathogenic —
RS2132004661 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132007757 ELP1 Health Risk Pathogenic —
RS2132010730 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2132013543 ELP1 Health Risk Pathogenic —
RS2132013740 ELP1 Health Risk Pathogenic —
RS2132013817 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Medulloblastoma
RS2132014128 ELP1 Health Risk Likely pathogenic —
RS2132014132 ELP1 Health Risk Likely pathogenic —
RS2132016792 ELP1 Health Risk Pathogenic —
RS2132016798 ELP1 Health Risk Pathogenic —
RS2132017050 ELP1 Health Risk Pathogenic —
RS2132017099 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2132018294 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132023620 CDH23 Health Risk Pathogenic —
RS2132025021 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2132025166 ELP1 Health Risk Pathogenic —
RS2132026515 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2132032720 ZMIZ1 Health Risk Pathogenic —
RS2132032860 ZMIZ1 Health Risk Pathogenic —
RS2132032937 ZMIZ1 Health Risk Likely pathogenic —
RS2132034522 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132036795 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS2132037242 ZMIZ1 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2132037844 ZMIZ1 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2132039347 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2132043448 PEX2 Health Risk Pathogenic —
RS2132043567 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132043667 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132043724 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132043781 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132043966 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132044032 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132044079 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132044384 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132044757 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132045027 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS2132045183 SFTPA2 Health Risk Pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS2132045372 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2132045613 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS2132045760 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2132046225 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2132046601 ZMYND11 Health Risk Pathogenic —
RS2132046635 SFTPA2 Health Risk Pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS2132052954 ELP1 Health Risk Pathogenic —
RS2132057373 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132057423 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS2132057443 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132059492 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132060982 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132061817 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132063305 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132063794 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2132065095 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2132065273 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132065290 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2132066003 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132066161 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132066800 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS2132066904 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2132068542 NPR2 Health Risk Likely pathogenic —
« Prev 1 ... 1745 1746 1747 1748 1749 1750 1751 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →