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: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2001 2017
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 7 2003 2014
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2012 2012
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 		0.700 0
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0