BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359212
rs80359212
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs80359328
rs80359328
0.882 0.240 13 32336684 frameshift variant -/A delins
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs80359540
rs80359540
0.925 0.080 13 32340176 frameshift variant A/- delins
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs80359584
rs80359584
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 0