SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886068834 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS886072363 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS886077189 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS886082025 MEFV Health Risk Pathogenic Familial Mediterranean fever, autosomal dominant
RS886128077 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Anemia
RS886134261 ESCO2 Health Risk Conflicting classifications of pathogenicity Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS886138913 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome
RS886192389 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS886196440 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886210482 RP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS886229659 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS886276412 EPG5 Health Risk Pathogenic Syndromic retinitis pigmentosa, Syndromic retinitis pigmentosa
RS886285802 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS886293648 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease
RS886320788 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS886344692 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS886349456 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS886357715 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS886358737 MBD4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Tumor predisposition syndrome 2
RS886376531 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS886463005 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886467526 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886498535 ADGRV1 Health Risk Likely pathogenic —
RS886507459 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS886527135 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS886527724 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS886551469 COL4A3 Health Risk Likely pathogenic —
RS886556800 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS886609418 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS886622502 BEST1 Health Risk Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS886626700 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, Inborn genetic diseases
RS886664739 ITGA6 Health Risk Pathogenic —
RS886754008 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS886800078 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS886819382 SPG11 Health Risk Pathogenic —
RS886868218 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS886869251 NBAS Health Risk Pathogenic —
RS886894962 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS886905654 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS886921615 NPHP3 Health Risk Pathogenic —
RS886923939 AICDA Health Risk Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS886940102 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS886965541 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS887019370 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS887040509 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS887046625 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS887057321 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS887126161 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS887132252 GP9 Health Risk Conflicting classifications of pathogenicity —
RS887143579 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS887190843 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS887206656 CCDC88C Health Risk Pathogenic —
RS887221055 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS887226313 EP300 Health Risk Conflicting classifications of pathogenicity Hepatoblastoma, EP300-related disorder
RS887245809 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1
RS887282132 COL18A1 Health Risk Likely pathogenic —
RS887335730 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS887346658 LMF1 Health Risk Pathogenic Lipase deficiency, combined
RS887358871 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS887367647 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS887386390 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS887388274 IMPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS887390037 TYRP1 Health Risk Pathogenic —
RS887411374 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS887436159 SLC26A4 Health Risk Likely pathogenic —
RS887468453 MAF Health Risk Conflicting classifications of pathogenicity Cataract 21 multiple types, Ayme-Gripp syndrome
RS887471790 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS887496752 USH2A Health Risk Pathogenic —
RS887506743 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS887513791 COL9A1 Health Risk Pathogenic —
RS887518261 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS887577241 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS887609185 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS887639693 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS887657778 CTNS Health Risk Pathogenic Ocular cystinosis, Ocular cystinosis
RS887658889 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS887693979 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS887750418 HERC2 Health Risk Conflicting classifications of pathogenicity —
RS887821047 HBB Health Risk Conflicting classifications of pathogenicity —
RS887833751 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS887847751 DSC2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS887848152 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS887871605 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS887888951 DTYMK Health Risk Pathogenic Neurodegeneration, childhood-onset
RS887908568 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS887921909 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS887930208 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS887933055 ALDH18A1 Health Risk Pathogenic/Likely pathogenic —
RS887942959 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS887944555 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS887971 IL18RAP Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS888015688 EFEMP2 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS888023247 TRIO Health Risk Pathogenic —
RS888059763 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS888064842 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS888075207 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS888084670 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS888088733 FMO3 Health Risk Pathogenic —
RS888090139 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS888138096 GDF6 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
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