Gene: BRCA1 ×
Source: UNIPROT ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs55770810
rs55770810
BRCA1
3 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.800 0
dbSNP: rs28897672
rs28897672
BRCA1
2 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 0 2006 2010
dbSNP: rs1800726
rs1800726
BRCA1
1 1.000 0.120 17 43070993 missense variant C/G;T snv 0.700 0
dbSNP: rs1800751
rs1800751
BRCA1
1 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1800757
rs1800757
BRCA1
1 1.000 0.120 17 43051069 missense variant G/A snv 0.700 0
dbSNP: rs273900729
rs273900729
BRCA1
2 0.925 0.160 17 43082529 missense variant A/G snv 0.700 0
dbSNP: rs80187739
rs80187739
BRCA1
1 0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs80356993
rs80356993
BRCA1
1 0.925 0.120 17 43063937 missense variant A/G;T snv 0.700 0
dbSNP: rs80357462
rs80357462
BRCA1
1 1.000 0.120 17 43057083 missense variant G/A;C snv 0.700 0
dbSNP: rs80357474
rs80357474
BRCA1
3 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.700 0