rs41293513, BRCA2

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 17 2004 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 13 2007 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 6 2008 2017