Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 1997 2016
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1997 2017
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 2 2002 2011
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.700 1.000 1 2004 2004
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0036631
Disease: Seminoma
Seminoma 		0.700 0
dbSNP: rs80359584
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80359584
rs80359584
BRCA2
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 		0.700 0