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
RS2102735278 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS2102735477 H3-3A Health Risk Likely pathogenic —
RS2102735576 H3-3A Health Risk Pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1, Bryant-Li-Bhoj neurodevelopmental syndrome 1
RS2102735630 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102735801 H3-3A Health Risk Pathogenic/Likely pathogenic Brain imaging abnormality, Delayed speech and language development
RS2102735854 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102735904 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102735931 ACTA1 Health Risk Likely pathogenic —
RS2102735950 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102735965 ACTA1 Health Risk Pathogenic —
RS2102736194 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102736219 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102736312 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102736333 COG2 Health Risk Likely pathogenic See cases, See cases
RS2102736351 ACTA1 Health Risk Likely pathogenic —
RS2102736408 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102736416 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102736554 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Congenital myopathy 2c
RS2102736562 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2102736976 H3-3A Health Risk Likely pathogenic Intellectual disability, Global developmental delay
RS2102741149 USH2A Health Risk Likely pathogenic —
RS2102741288 USH2A Health Risk Pathogenic —
RS2102741367 USH2A Health Risk Likely pathogenic —
RS2102741708 GALNT2 Health Risk Likely pathogenic Congenital disorder of glycosylation, type iit
RS2102742278 USH2A Health Risk Pathogenic —
RS2102742543 H3-3A Health Risk Pathogenic —
RS2102742562 H3-3A Health Risk Pathogenic Global developmental delay, Intellectual disability
RS2102748161 USH2A Health Risk Pathogenic —
RS2102760660 USH2A Health Risk Pathogenic —
RS2102762663 USH2A Health Risk Pathogenic —
RS2102763350 USH2A Health Risk Pathogenic —
RS2102763351 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102763421 USH2A Health Risk Pathogenic —
RS2102766786 USH2A Health Risk Pathogenic —
RS2102766834 USH2A Health Risk Pathogenic —
RS2102766886 USH2A Health Risk Pathogenic —
RS2102767109 USH2A Health Risk Pathogenic —
RS2102769946 USH2A Health Risk Pathogenic —
RS2102769969 USH2A Health Risk Pathogenic —
RS2102770892 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2102772927 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102773181 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102773374 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102778169 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102778466 USH2A Health Risk Likely pathogenic —
RS2102778595 USH2A Health Risk Pathogenic —
RS2102778597 USH2A Health Risk Likely pathogenic —
RS2102778615 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102778641 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102778824 USH2A Health Risk Likely pathogenic —
RS2102778849 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102778876 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102778910 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102780481 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102782435 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102783199 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102783738 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102783758 USH2A Health Risk Pathogenic —
RS2102783934 USH2A Health Risk Pathogenic —
RS2102784614 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102784860 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102785788 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102786101 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102788200 USH2A Health Risk Pathogenic —
RS2102788229 USH2A Health Risk Pathogenic —
RS2102788650 USH2A Health Risk Pathogenic —
RS2102788658 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102788720 USH2A Health Risk Likely pathogenic —
RS2102788764 USH2A Health Risk Pathogenic —
RS2102788868 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS2102788946 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102789194 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102789590 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102789885 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2102790139 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102791328 AGT Health Risk Likely pathogenic Anhydramnios, Large fontanelles
RS2102792992 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102792994 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, USH2A-related disorder
RS2102793202 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2102796345 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102796365 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102796376 USH2A Health Risk Pathogenic —
RS2102796387 USH2A Health Risk Pathogenic —
RS2102796411 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102796431 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS2102796558 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS2102813310 GNPAT Health Risk Pathogenic —
RS2102813590 PAPPA2 Health Risk Pathogenic Short stature, Dauber-Argente type
RS2102814284 IARS2 Health Risk Likely pathogenic —
RS2102815215 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102815577 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2102816598 USH2A Health Risk Pathogenic —
RS2102816719 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2102817088 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817265 LMNA Health Risk Pathogenic —
RS2102817550 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817644 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817667 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817698 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2102817930 LMNA Health Risk Likely pathogenic Hutchinson-Gilford syndrome, Hutchinson-Gilford syndrome
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