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
RS397517725 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS397517727 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517729 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS397517730 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS397517731 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS397517733 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS397517735 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS397517736 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517741 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397517746 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS397517749 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS397517750 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397517755 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS397517756 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517758 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS397517759 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS397517763 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS397517770 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517771 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS397517772 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS397517775 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS397517776 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS397517783 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS397517786 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS397517787 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397517788 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS397517790 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS397517791 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS397517795 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517825 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517826 TTN Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiomyopathy
RS397517827 TTN Health Risk Conflicting classifications of pathogenicity —
RS397517829 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517830 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS397517832 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS397517834 TMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS397517843 NEXN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1CC
RS397517846 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Arrhythmogenic right ventricular dysplasia 9
RS397517848 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS397517865 TMIE Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517866 TMIE Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517867 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, Inborn genetic diseases
RS397517869 TMIE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS397517880 USH1C Health Risk Conflicting classifications of pathogenicity —
RS397517883 USH1C Health Risk Conflicting classifications of pathogenicity —
RS397517886 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517887 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397517888 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517889 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517890 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517895 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397517897 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS397517901 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hypertrophic cardiomyopathy
RS397517902 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS397517903 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS397517904 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517905 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517906 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397517907 LMNA Health Risk Uncertain significance/Uncertain risk allele Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia with type A lipodystrophy
RS397517908 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517909 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517911 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517912 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Myocarditis
RS397517914 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS397517915 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS397517916 EYA1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517917 EYA1 Health Risk Pathogenic Rare genetic deafness, Branchiootic syndrome 1
RS397517918 EYA1 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517919 EYA1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397517920 EYA1 Health Risk Likely pathogenic Rare genetic deafness, Branchiootorenal syndrome 1
RS397517921 SGCD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS397517923 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS397517925 USH1G Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1G
RS397517927 USH1G Health Risk Conflicting classifications of pathogenicity —
RS397517930 CLRN1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 3
RS397517932 CLRN1 Health Risk Pathogenic Usher syndrome type 3, Rare genetic deafness
RS397517935 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS397517940 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS397517941 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS397517951 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS397517953 SCN5A Health Risk Conflicting classifications of pathogenicity Sudden unexplained death, Brugada syndrome 1
RS397517956 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS397517959 FHL2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, FHL2-related cardiomyopathy
RS397517963 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS397517964 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397517966 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS397517969 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS397517973 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397517974 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Cone-rod dystrophy
RS397517976 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397517977 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397517978 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397517979 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397517981 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397517982 USH2A Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Usher syndrome
RS397517983 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397517984 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS397517985 USH2A Health Risk Pathogenic —
RS397517987 USH2A Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS397517988 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
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