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
RS727504675 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS727504677 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504679 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727504686 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504688 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS727504689 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS727504693 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727504696 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504697 TTN Health Risk Conflicting classifications of pathogenicity —
RS727504698 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504703 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS727504707 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS727504709 RDX Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 24
RS727504712 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS727504715 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS727504718 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS727504721 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS727504725 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS727504730 WFS1 Health Risk Uncertain significance/Uncertain risk allele Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS727504732 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504736 TTN Health Risk Conflicting classifications of pathogenicity —
RS727504738 DSP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504740 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS727504741 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS727504742 LAMP2 Health Risk Pathogenic Danon disease, Primary dilated cardiomyopathy
RS727504743 MYO6 Health Risk Conflicting classifications of pathogenicity —
RS727504746 ATP6V1B1 Health Risk Pathogenic Rare genetic deafness, Renal tubular acidosis with progressive nerve deafness
RS727504747 HRAS Health Risk Likely pathogenic Costello syndrome, Costello syndrome
RS727504750 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727504761 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504763 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727504767 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504769 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Short QT syndrome type 2
RS727504770 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS727504771 GIPC3 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504773 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS727504776 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504777 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2C
RS727504778 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS727504782 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504783 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS727504786 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS727504791 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, PCDH15-related disorder
RS727504793 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504797 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504799 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS727504801 SCN5A Health Risk Pathogenic Primary dilated cardiomyopathy, Brugada syndrome
RS727504802 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS727504811 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS727504814 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Nonpapillary renal cell carcinoma
RS727504815 DNAAF2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS727504819 MAP2K1 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 3, Noonan syndrome 1
RS727504821 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504825 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS727504829 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS727504830 TECTA Health Risk Pathogenic TECTA-related disorder, Autosomal recessive nonsyndromic hearing loss 21
RS727504831 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727504832 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS727504836 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS727504838 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS727504843 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504850 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RS727504851 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727504856 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS727504857 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS727504859 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS727504864 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727504867 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS727504872 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A
RS727504878 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504887 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727504890 USH1G Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS727504893 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS727504900 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS727504901 EMD Health Risk Pathogenic Neuromuscular disease, X-linked Emery-Dreifuss muscular dystrophy
RS727504904 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727504905 CSRP3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS727504913 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS727504914 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504918 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504922 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504923 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727504925 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504932 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS727504936 OTOF Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504937 OTOF Health Risk Pathogenic —
RS727504940 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS727504945 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS727504949 TTN Health Risk Conflicting classifications of pathogenicity —
RS727504953 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Danon disease
RS727504965 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS727504969 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS727504971 TTN Health Risk Conflicting classifications of pathogenicity —
RS727504972 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS727504976 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS727504978 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727504980 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727504985 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727504986 TTN Health Risk Conflicting classifications of pathogenicity —
RS727504987 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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