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
RS2519131361 USP9X Health Risk Pathogenic —
RS2519132097 CACNA1F Health Risk Pathogenic —
RS2519132239 MAOA Health Risk Pathogenic Brunner syndrome, Brunner syndrome
RS2519133218 USP9X Health Risk Likely pathogenic —
RS2519133759 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS2519135002 TUBGCP6 Health Risk Likely pathogenic TUBGCP6-related disorder, TUBGCP6-related disorder
RS2519136614 TUBGCP6 Health Risk Pathogenic —
RS2519137163 CACNA1F Health Risk Pathogenic —
RS2519137871 TUBGCP6 Health Risk Pathogenic —
RS2519138293 CACNA1F Health Risk Pathogenic —
RS2519138333 CACNA1F Health Risk Pathogenic —
RS2519138457 CACNA1F Health Risk Likely pathogenic —
RS2519139321 CACNA1F Health Risk Likely pathogenic —
RS2519139379 CACNA1F Health Risk Pathogenic —
RS2519139558 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2519139712 CACNA1F Health Risk Pathogenic —
RS2519140321 PCNT Health Risk Pathogenic —
RS2519140512 PCNT Health Risk Likely pathogenic —
RS2519141206 CACNA1F Health Risk Pathogenic —
RS2519143252 CACNA1F Health Risk Pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS2519143271 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2519143355 CACNA1F Health Risk Pathogenic —
RS2519147043 TUBGCP6 Health Risk Pathogenic —
RS2519147078 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519147386 TANGO2 Health Risk Pathogenic/Likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS2519148209 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519148962 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS2519151963 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS2519155952 USP9X Health Risk Pathogenic —
RS2519156130 USP9X Health Risk Likely pathogenic —
RS2519156202 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2519156797 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2519159409 PCNT Health Risk Likely pathogenic —
RS2519160173 TUBGCP6 Health Risk Pathogenic —
RS2519160574 TUBGCP6 Health Risk Pathogenic —
RS2519163494 XK Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS2519163580 XK Health Risk Pathogenic —
RS2519166848 USP27X Health Risk Likely pathogenic —
RS2519167013 USP27X Health Risk Likely pathogenic Intellectual disability, X-linked 105
RS2519167465 USP27X Health Risk Likely pathogenic Intellectual disability, X-linked 105
RS2519167480 USP27X Health Risk Likely pathogenic Intellectual disability, X-linked 105
RS2519167657 USP27X Health Risk Likely pathogenic Intellectual disability, X-linked 105
RS2519174814 BMP15 Health Risk Pathogenic —
RS2519174939 PCNT Health Risk Pathogenic —
RS2519175029 PCNT Health Risk Pathogenic —
RS2519178309 TUBGCP6 Health Risk Pathogenic —
RS2519180310 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519182359 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519183618 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2519185601 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2519185876 FOXP3 Health Risk Likely pathogenic FOXP3-related disorder, FOXP3-related disorder
RS2519186384 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2519186420 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2519189201 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519189260 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519189282 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519189288 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519190847 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519192078 FOXP3 Health Risk Likely pathogenic FOXP3-related disorder, FOXP3-related disorder
RS2519194123 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2519194266 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2519196832 FOXP3 Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2519197052 FOXP3 Health Risk Likely pathogenic FOXP3-related disorder, FOXP3-related disorder
RS2519197917 MYH7B Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS2519198695 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519198782 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519199772 CASK Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2519199990 CYBB Health Risk Pathogenic —
RS2519200004 MID1 Health Risk Pathogenic —
RS2519200090 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS2519200663 MID1 Health Risk Likely pathogenic —
RS2519200725 MID1 Health Risk Likely pathogenic —
RS2519201544 MID1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2519201923 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519201935 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS2519202036 CYBB Health Risk Likely pathogenic —
RS2519203450 MYH7B Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Dilated cardiomyopathy with left ventricular noncompaction
RS2519204472 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519204505 CYBB Health Risk Pathogenic CYBB-related disorder, CYBB-related disorder
RS2519204556 USP9X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519204575 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519204598 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519206714 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519206740 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519208678 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519208716 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519208752 CYBB Health Risk Likely pathogenic —
RS2519208804 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS2519208868 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519208920 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519208929 CYBB Health Risk Pathogenic Chronic granulomatous disease, Chronic granulomatous disease
RS2519208931 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519209274 GK Health Risk Likely pathogenic GK-related disorder, GK-related disorder
RS2519209810 CYBB Health Risk Likely pathogenic —
RS2519209820 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519210990 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS2519211018 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519211098 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS2519211145 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2519213323 CYBB Health Risk Pathogenic Granulomatous disease, chronic
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