rs397507327, BRCA2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 28678401 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
0.700 CausalMutation CLINVAR
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.700 CausalMutation CLINVAR
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.700 CausalMutation CLINVAR
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
0.700 CausalMutation CLINVAR
GLIOMA SUSCEPTIBILITY 3
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
0.700 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.700 CausalMutation CLINVAR