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
RS1822063314 ANK1 Health Risk Likely pathogenic —
RS1822066969 SLC39A4 Health Risk Pathogenic —
RS1822069596 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS182207224 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS182207372 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS1822076943 SLC39A4 Health Risk Pathogenic —
RS1822078302 SLC39A4 Health Risk Likely pathogenic —
RS182208325 BAG5 Health Risk Likely pathogenic Cardiomyopathy, dilated
RS1822094873 SLC39A4 Health Risk Pathogenic —
RS1822095840 SLC39A4 Health Risk Pathogenic —
RS1822128152 SLC39A4 Health Risk Pathogenic —
RS1822131416 KAT6A Health Risk Likely pathogenic —
RS1822160024 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS182216426 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS182216709 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS182220009 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS1822202286 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1822216217 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1822218503 SLC39A4 Health Risk Pathogenic —
RS1822243280 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1822257059 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS182233369 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS1822355402 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1822368895 CNGB3 Health Risk Pathogenic —
RS1822412202 KAT6A Health Risk Pathogenic/Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS182243856 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS182246929 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1822469455 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1822472679 KAT6A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS182247389 NLGN4X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182248363 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 54, Retinitis pigmentosa
RS182249285 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS1822519573 KCNQ3 Health Risk Likely pathogenic —
RS182252292 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1822523749 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1822554467 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1822581744 CARNMT1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS182260391 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS182260529 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS182262420 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS182262649 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1822649338 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS182268224 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS1822732302 VPS13A Health Risk Pathogenic —
RS182274413 CWC27 Health Risk Likely pathogenic —
RS182276666 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS182282150 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1822828039 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS182284347 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS1822869930 KAT6A Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1822870462 KAT6A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1822898131 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1822903424 CNGB3 Health Risk Pathogenic —
RS182293382 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS182293743 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS1822943756 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182294717 TBCE Health Risk Conflicting classifications of pathogenicity —
RS182295674 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1822989898 CNGB3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS182305760 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, IGFALS-related disorder
RS1823058034 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS1823086297 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1823095401 GRHPR Health Risk Likely pathogenic —
RS1823102495 VPS13A Health Risk Pathogenic —
RS182312393 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1823130291 VPS13A Health Risk Pathogenic —
RS1823137520 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823137578 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823138986 EXT1 Health Risk Pathogenic Chondrosarcoma, Exostoses
RS1823192606 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1823198138 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1823200345 SMARCA2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1823212414 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823212594 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823212774 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823212809 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823213767 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823213816 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823214768 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823215251 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS182322608 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS1823236444 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1823236911 CNGB3 Health Risk Pathogenic —
RS1823251224 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823251265 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS182325166 NEB Health Risk Conflicting classifications of pathogenicity Nebulin-related early-onset distal myopathy, Nemaline myopathy 2
RS1823253013 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823253080 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823253516 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1823253698 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823254238 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823254431 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823255835 EXT1 Health Risk Pathogenic Exostoses, multiple
RS1823261546 CNGB3 Health Risk Likely pathogenic —
RS1823261605 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Achromatopsia
RS1823266560 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS182329513 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS182330532 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1823342505 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS1823350795 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
« Prev 1 ... 1262 1263 1264 1265 1266 1267 1268 ... 4509 Next »

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

Get Started Free →