BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 5; N. variants: 98
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×
Source: UNIPROT ×
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: rs80357474
rs80357474 		0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.800 1.000 16 2003 2017
dbSNP: rs398122697
rs398122697 		0.925 0.080 17 43049170 missense variant A/G 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 20 1996 2017
dbSNP: rs56214134
rs56214134 		0.925 0.080 17 43091931 missense variant C/A;G snv 1.2E-04; 2.3E-04
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 18 1996 2017
dbSNP: rs751656678
rs751656678 		1.000 17 43093028 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 15 2003 2017
dbSNP: rs1800709
rs1800709 		0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 14 2004 2017