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
RS2469357553 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469357563 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469357703 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469357771 ABCA12 Health Risk Pathogenic —
RS2469358365 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469361028 ABCA12 Health Risk Pathogenic —
RS2469363669 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469366209 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469370010 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2469370716 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469376762 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469376996 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469377325 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469377349 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469377567 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469377585 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469377723 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469377733 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469378204 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469378366 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469378722 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469378852 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469378876 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469378890 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469379191 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469380372 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2469381364 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469381777 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469382035 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469382170 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469382389 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469382681 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469383470 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469384035 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469385526 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469385599 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS2469385921 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469387223 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469387281 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469387688 SP110 Health Risk Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2469388589 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469391309 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469392477 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469394817 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469396420 SP110 Health Risk Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2469397711 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469398533 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469400184 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2469400908 SP110 Health Risk Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2469404531 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469405024 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS2469406811 ABCA12 Health Risk Pathogenic —
RS2469410140 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2469410613 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469411858 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469412099 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469412453 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469415251 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469415328 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469415837 ABCA12 Health Risk Pathogenic —
RS2469419056 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469419829 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469421683 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469421735 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469430815 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469434605 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469435494 FARSB Health Risk Pathogenic —
RS2469436837 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2469442633 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469442655 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469442686 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469442863 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469442935 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469443217 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469443496 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469443549 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469443673 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469443815 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469444065 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469444462 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469444820 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469444923 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469445068 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469445078 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469445278 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469446790 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469447515 ABCA12 Health Risk Likely pathogenic —
RS2469447838 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469448061 COL4A3 Health Risk Pathogenic —
RS2469448258 COL4A3 Health Risk Likely pathogenic —
RS2469448859 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2469449960 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469450195 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS2469450369 CNNM4 Health Risk Pathogenic —
RS2469451911 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469453674 CNOT9 Health Risk Likely pathogenic CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder
RS2469454032 CNNM4 Health Risk Likely pathogenic Jalili syndrome, Jalili syndrome
RS2469454035 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469454164 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469454517 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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