Source: ALL

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: rs80357034
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1994 2017
dbSNP: rs80357034
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 2001 2017
dbSNP: rs80357034
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 6 2000 2016
dbSNP: rs80357034
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80357034
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 < 0.001 1 2012 2012