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
RS2501829507 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501830039 PNP Health Risk Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2501830093 PNP Health Risk Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2501830680 NALCN Health Risk Likely pathogenic —
RS2501831752 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501832390 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501832537 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501832595 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501832728 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501833115 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501833361 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501833379 NALCN Health Risk Pathogenic Hypotonia, infantile
RS2501834109 PNP Health Risk Likely pathogenic —
RS2501835086 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2501835633 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501835987 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501836317 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501836909 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2501838391 COL4A1 Health Risk Pathogenic —
RS2501840293 HNRNPC Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 74
RS2501841517 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501841902 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501842149 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501842233 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501842561 SLC7A7 Health Risk Likely pathogenic SLC7A7-related disorder, Lysinuric protein intolerance
RS2501844173 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501844440 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501844566 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501845489 OXGR1 Health Risk Pathogenic Nephrolithiasis, calcium oxalate
RS2501847126 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501847136 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501849042 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501851232 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS2501852178 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501853049 CHD8 Health Risk Likely pathogenic —
RS2501854454 PIBF1 Health Risk Likely pathogenic Joubert syndrome 33, PIBF1-related disorder
RS2501856727 FGF14 Health Risk Likely pathogenic Spinocerebellar ataxia type 27, FGF14-related disorder
RS2501857420 CHD8 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2501857970 CHD8 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2501858298 FGF14 Health Risk Pathogenic —
RS2501858533 CHD8 Health Risk Likely pathogenic —
RS2501859189 CHD8 Health Risk Likely pathogenic —
RS2501859414 CHD8 Health Risk Pathogenic —
RS2501860074 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501860374 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501862857 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501862875 CHD8 Health Risk Pathogenic —
RS2501863310 CHD8 Health Risk Pathogenic —
RS2501863593 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501863948 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501864551 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501866353 NALCN Health Risk Conflicting classifications of pathogenicity Congenital contractures of the limbs and face, hypotonia
RS2501867057 CHD8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501886630 CHD8 Health Risk Likely pathogenic —
RS2501888861 CHD8 Health Risk Pathogenic CHD8-related disorder, CHD8-related disorder
RS2501893676 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2501896369 ZMYM2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501896375 CHD8 Health Risk Pathogenic —
RS2501896438 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501896457 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501897755 ZMYM2 Health Risk Pathogenic ZMYM2-related disorder, ZMYM2-related disorder
RS2501897802 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501900617 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2501900788 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501901102 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501903108 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS2501904395 ZMYM2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501908160 ZMYM2 Health Risk Pathogenic —
RS2501911040 CHD8 Health Risk Pathogenic —
RS2501913432 CHD8 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2501923179 CHD8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501923833 CHD8 Health Risk Pathogenic —
RS2501925066 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501930345 CHD8 Health Risk Likely pathogenic —
RS2501931660 FGF14 Health Risk Pathogenic Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
RS2501931899 FGF14 Health Risk Likely pathogenic Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
RS2501941944 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501947501 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501947601 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501948490 TGDS Health Risk Likely pathogenic —
RS2501953922 CHD8 Health Risk Likely pathogenic —
RS2501954565 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501965282 TMTC3 Health Risk Likely pathogenic Lissencephaly 8, Lissencephaly 8
RS2501974171 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501974273 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501974931 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501975297 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501975599 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501975686 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501975835 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501976400 NALCN Health Risk Pathogenic —
RS2501976760 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501977003 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501977331 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501977415 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501977529 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501977684 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501977813 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501978087 TMTC3 Health Risk Likely pathogenic Lissencephaly 8, Lissencephaly 8
RS2501978213 TMTC3 Health Risk Pathogenic —
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