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
RS1555605562 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1555605640 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1555605688 CLTC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555605750 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS1555605752 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555605795 SMARCE1 Health Risk Likely pathogenic Coffin-Siris syndrome 5, Coffin-Siris syndrome 5
RS1555605866 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555605893 SMARCE1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555605900 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1555605902 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555605906 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555605955 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555605965 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1555606044 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555606053 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555606061 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555606080 NF1 Health Risk Pathogenic —
RS1555606098 NF1 Health Risk Pathogenic —
RS1555606113 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555606118 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555606137 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555606300 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1
RS1555606338 CLTC Health Risk Pathogenic —
RS1555606630 CLTC Health Risk Pathogenic —
RS1555606635 CLTC Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 56
RS1555606652 CLTC Health Risk Pathogenic —
RS1555606922 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1555606936 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1555606959 TCAP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G, Abnormality of the musculature
RS1555606976 TCAP Health Risk Pathogenic/Likely pathogenic Elevated circulating creatine kinase concentration, Abnormality of the musculature
RS1555607022 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1555607035 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1555607069 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555607070 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555607073 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555607093 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555607102 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555607107 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1555607110 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555607112 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555607123 NF1 Health Risk Likely pathogenic —
RS1555607126 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555607130 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555607159 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS1555607179 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555607195 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1555607212 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555607230 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555607235 CLTC Health Risk Likely pathogenic —
RS1555607258 BRIP1 Health Risk Conflicting classifications of pathogenicity Breast cancer, early-onset
RS1555607273 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555607285 NXN Health Risk Pathogenic Robinow syndrome, autosomal recessive 2
RS1555607296 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1555607332 CLTC Health Risk Pathogenic —
RS1555607504 CLTC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555607599 MPO Health Risk Likely pathogenic —
RS1555607616 CLTC Health Risk Pathogenic —
RS1555607621 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS1555607628 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555607640 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1555607651 FLCN Health Risk Pathogenic —
RS1555607674 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1555607682 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS1555607749 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555607759 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555607763 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555607768 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555607792 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1555607929 FLCN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1555607960 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1555608515 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555608552 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555608611 FLCN Health Risk Pathogenic —
RS1555608614 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555608617 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555608643 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555608647 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555608663 NF1 Health Risk Likely pathogenic Cafe au lait spots, multiple
RS1555608734 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555608736 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555608737 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555608740 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555608763 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555608765 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555608924 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555608925 NF1 Health Risk Pathogenic —
RS1555608928 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555608970 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555608972 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555608981 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555608994 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555609116 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1555609121 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555609162 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555609191 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1555609200 PTRH2 Health Risk Likely pathogenic —
RS1555609214 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555609254 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1555609257 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1555609298 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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