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
RS2469454617 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469454780 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469454918 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469455174 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS2469455356 CNNM4 Health Risk Pathogenic —
RS2469456336 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469459667 SP110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2469460047 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469461551 FASTKD2 Health Risk Pathogenic —
RS2469463138 COL4A3 Health Risk Likely pathogenic —
RS2469464326 C2orf69 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2469466319 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469469405 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469471064 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469471076 PAX3 Health Risk Likely pathogenic —
RS2469471722 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469471838 PAX3 Health Risk Pathogenic —
RS2469471849 PAX3 Health Risk Pathogenic —
RS2469472228 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469472881 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS2469475039 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469475477 CNOT9 Health Risk Pathogenic/Likely pathogenic CNOT9-associated neurodevelopmental disorder, CNOT9-associated neurodevelopmental disorder
RS2469478619 PAX3 Health Risk Pathogenic —
RS2469478626 PAX3 Health Risk Likely pathogenic —
RS2469479413 PAX3 Health Risk Likely pathogenic —
RS2469485801 PAX3 Health Risk Pathogenic —
RS2469485870 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2469485988 PAX3 Health Risk Pathogenic —
RS2469486031 PAX3 Health Risk Pathogenic —
RS2469489120 COL4A3 Health Risk Pathogenic —
RS2469493635 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2469494483 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469494613 TMEM237 Health Risk Likely pathogenic TMEM237-related disorder, TMEM237-related disorder
RS2469494821 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469495332 PAX3 Health Risk Pathogenic —
RS2469498081 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2469498201 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2469500161 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469500676 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469501357 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469501426 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469502068 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469502350 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469502451 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469502527 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469502770 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469502851 COL4A3 Health Risk Pathogenic —
RS2469502863 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469503075 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469503108 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469503239 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469503276 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BARD1-related cancer predisposition
RS2469503410 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469503482 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469503962 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469504219 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469504712 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469504845 BARD1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2469505389 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469505429 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469505467 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469505548 TMEM237 Health Risk Likely pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2469505677 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469505710 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469505861 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469506018 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469506085 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469506135 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469506149 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469506256 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469506291 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469506925 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469507059 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469507501 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469507728 BARD1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2469507806 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469507897 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469507940 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469508359 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469508458 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469508905 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2469509100 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469509131 BARD1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2469509161 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469509221 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469509273 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469509531 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469509572 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469509820 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469509853 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469510019 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469510048 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469510104 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469510181 IHH Health Risk Pathogenic —
RS2469510248 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469510405 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469510700 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469510717 IHH Health Risk Pathogenic —
RS2469510863 BARD1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2469511280 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
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