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
RS1555601006 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555601009 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555601027 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555601059 BRCA1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Breast-ovarian cancer
RS1555601064 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555601094 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555601203 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555601204 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555601234 GAA Health Risk Likely pathogenic Inborn genetic diseases, Glycogen storage disease
RS1555601255 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1555601409 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555601448 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1555601633 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555601662 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555601748 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555601754 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1555601780 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555601787 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS1555601802 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555601828 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555601863 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1555601979 JUP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12
RS1555602080 JUP Health Risk Likely pathogenic Naxos disease, Naxos disease
RS1555602124 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555602127 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1555602136 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555602141 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555602145 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555602149 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555602154 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555602158 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555602159 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555602420 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1555602537 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555602638 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555602648 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555602692 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555602703 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555602832 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555602860 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603011 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555603048 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555603052 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555603056 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555603112 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1555603131 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603132 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555603208 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603216 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603219 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1555603264 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603318 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603364 SCN4A Health Risk Likely pathogenic —
RS1555603434 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1555603597 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1555603622 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555603635 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1555603638 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555603645 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555603671 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1555603752 CLTC Health Risk Pathogenic —
RS1555603796 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS1555603894 KCNJ2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555603955 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Andersen Tawil syndrome
RS1555603968 KCNJ2 Health Risk Likely pathogenic Andersen Tawil syndrome, Andersen Tawil syndrome
RS1555603974 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS1555603994 KCNJ2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Andersen Tawil syndrome
RS1555604462 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1555604481 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1555604541 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS1555604778 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS1555604867 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1555604874 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1555604877 NF1 Health Risk Pathogenic Spinal neurofibroma, Spinal neurofibroma
RS1555604887 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555604897 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555604899 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555604925 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555604935 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555604939 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555604941 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555604942 NF1 Health Risk Pathogenic —
RS1555605052 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS1555605054 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555605056 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1555605068 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555605074 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555605079 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1555605096 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1555605103 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555605347 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS1555605362 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555605393 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555605396 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555605398 NF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555605404 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555605406 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555605409 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555605497 CLTC Health Risk Pathogenic —
RS1555605532 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
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