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
RS2495682477 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2495686925 MICU1 Health Risk Pathogenic —
RS2495687763 MICU1 Health Risk Likely pathogenic —
RS2495688455 KCNK4 Health Risk Pathogenic —
RS2495688598 PHF21A Health Risk Likely pathogenic —
RS2495696275 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS2495701378 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS2495712049 CBLIF Health Risk Likely pathogenic Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS2495715163 NDUFV1 Health Risk Likely pathogenic —
RS2495715777 NDUFV1 Health Risk Pathogenic —
RS2495715811 NDUFV1 Health Risk Pathogenic —
RS2495716193 NDUFV1 Health Risk Pathogenic/Likely pathogenic NDUFV1-related disorder, NDUFV1-related disorder
RS2495717946 NDUFV1 Health Risk Likely pathogenic —
RS2495717980 NDUFV1 Health Risk Pathogenic —
RS2495718275 NDUFV1 Health Risk Pathogenic —
RS2495718428 NDUFV1 Health Risk Pathogenic —
RS2495718539 NDUFV1 Health Risk Pathogenic —
RS2495721189 NDUFV1 Health Risk Pathogenic —
RS2495722896 NDUFV1 Health Risk Likely pathogenic NDUFV1-related disorder, NDUFV1-related disorder
RS2495723625 NDUFV1 Health Risk Pathogenic —
RS2495723842 NDUFV1 Health Risk Pathogenic —
RS2495726324 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2495726355 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS2495726667 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS2495728066 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2495728074 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2495728234 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495728963 MYPN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495728996 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495733080 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495735152 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2495735937 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2495736043 MYBPC3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495736079 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495736089 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495736211 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495736234 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495736235 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2495736329 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495736362 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS2495736417 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2495736462 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2495736532 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2495736635 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495736709 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495736716 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495736746 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495737667 MYBPC3 Health Risk Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2495737827 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495737867 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495738176 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495738246 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2495738531 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS2495738554 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2495738570 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS2495738577 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2495738634 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495738724 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495738769 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495738849 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495738884 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495739801 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2495739867 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495739948 BBS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2495739957 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2495740075 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495740123 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2495740196 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2495740202 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495740224 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS2495740476 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495741409 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495741473 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495741498 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495741505 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2495741578 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2495741656 MYBPC3 Health Risk Pathogenic —
RS2495742173 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2495742220 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495742629 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495742646 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495742710 MYBPC3 Health Risk Likely pathogenic MYBPC3-related disorder, MYBPC3-related disorder
RS2495742730 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495742763 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495742791 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495743452 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495744364 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495744443 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495744494 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2495744499 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2495744526 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495744610 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495746259 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS2495746502 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495746525 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2495746527 MYBPC3 Health Risk Pathogenic —
RS2495746594 INS Health Risk Likely pathogenic INS-related disorder, INS-related disorder
RS2495746652 INS Health Risk Conflicting classifications of pathogenicity —
RS2495746695 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2495746800 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
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