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: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.710 1.000 16 1999 2014
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2008 2008
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1999 2017
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 7 2001 2019
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.700 0
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 		0.700 0
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.010 1.000 1 2011 2011
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 < 0.001 1 2011 2011
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 < 0.001 1 2011 2011