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
RS1567817431 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS1567817516 RAD51C Health Risk Likely pathogenic Ovarian neoplasm, Ovarian serous cystadenocarcinoma
RS1567817841 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567817865 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567817957 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567817974 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567817981 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567818032 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567818033 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567818091 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1567818219 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1567818236 CCDC40 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1567818564 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1567818677 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1567818774 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1567819544 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1567819753 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1567819834 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1567819905 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Congenital myopathy
RS1567819954 SCN4A Health Risk Likely pathogenic —
RS1567820688 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567820732 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567820765 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567820771 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567822638 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1567823095 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1567823106 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1567823248 KCNJ2 Health Risk Pathogenic Short QT syndrome type 3, Andersen Tawil syndrome
RS1567823254 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1567823382 BRCA1 Health Risk Likely pathogenic Familial cancer of breast, Breast-ovarian cancer
RS1567825026 DGKE Health Risk Likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, DGKE-related disorder
RS1567825175 GAA Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Glycogen storage disease
RS1567825391 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1567825858 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567825887 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567826110 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567826158 NF1 Health Risk Likely pathogenic —
RS1567826188 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567826603 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567826623 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567826633 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567826819 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567829962 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1567830317 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1567830555 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS1567831477 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1567831649 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1567832762 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1567834739 SLC4A1 Health Risk Likely pathogenic 11 conditions, 11 conditions
RS1567834983 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567835161 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567835183 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567835613 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1567835662 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567835775 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1567835781 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1567835847 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567836090 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567838174 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567838246 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1567838293 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567838311 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567838823 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1567840389 SUZ12 Health Risk Pathogenic —
RS1567840448 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1567841596 NEUROD2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 72
RS1567841799 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567843917 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567843919 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567843930 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567843934 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567843945 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567844041 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1567844114 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1567844992 CHD3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1567845046 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567845057 NF1 Health Risk Pathogenic —
RS1567845069 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567845116 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567845818 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567845900 NF1 Health Risk Pathogenic —
RS1567845906 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567845935 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567845937 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567845945 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567846600 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567846634 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567846670 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567846698 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567846823 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567847278 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1567847384 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567847398 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567847538 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567847540 NF1 Health Risk Pathogenic —
RS1567847571 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567847621 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567847681 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567847905 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567847962 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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