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
RS2053993422 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2053994698 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2053998620 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2053998767 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054001685 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2054005225 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2054008789 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054009524 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054011546 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2054013870 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054014288 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2054014425 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054014720 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054015565 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054018121 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2054029064 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054036520 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2054036647 BRCA1 Health Risk Likely pathogenic —
RS2054037292 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2054038332 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS2054040121 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2054042523 RSPH1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 24
RS2054044790 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054049254 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054049431 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054050036 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054054165 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2054059120 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054062966 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054064686 BRCA1 Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2054085839 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS2054086848 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS20541 IL13 Health Risk Benign; risk factor Inherited susceptibility to asthma, Allergic rhinitis
RS2054117523 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054118261 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS2054119238 CHD2 Health Risk Pathogenic —
RS2054124504 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2054129122 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2054139802 CHD2 Health Risk Pathogenic —
RS2054148805 CAPN3 Health Risk Likely pathogenic —
RS2054150380 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2054157050 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2054158750 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2054170313 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2054171622 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome
RS2054171715 NR2E3 Health Risk Pathogenic —
RS2054172807 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2054175603 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054176940 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer
RS2054178411 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054179222 NR2E3 Health Risk Pathogenic —
RS2054179951 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2054180034 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2054180829 CAPN3 Health Risk Pathogenic —
RS2054181752 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2054184757 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS2054185246 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2054186817 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS2054187597 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2054188747 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2054189787 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS2054196709 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2054197477 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054197493 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054200651 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054200789 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054201060 CHD2 Health Risk Likely pathogenic —
RS2054201689 NR2E3 Health Risk Likely pathogenic Retinal dystrophy, Enhanced S-cone syndrome
RS2054201996 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2054202316 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2054203105 NR2E3 Health Risk Pathogenic —
RS2054205040 NR2E3 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2054206816 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS2054206966 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2054207747 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2054207798 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Enhanced S-cone syndrome
RS2054212444 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054222422 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2054237722 NR2E3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2054265721 CHD2 Health Risk Likely pathogenic Intellectual disability, Thyroid cancer
RS2054277617 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2054279545 KIF1A Health Risk Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 30
RS2054280202 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS2054281859 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2054297318 CHD2 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2054311111 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054311767 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2054312626 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2054315696 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054316045 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054319272 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054320626 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054321037 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054322016 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054322279 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054323152 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2054324732 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2054329519 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2054330803 CHEK2 Health Risk Pathogenic/Likely pathogenic Breast and/or ovarian cancer, Familial cancer of breast
RS2054331180 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
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