BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
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: rs886039958
rs886039958
0.882 0.080 17 43093956 frameshift variant A/-;AA delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2007
dbSNP: rs1060915
rs1060915
1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12516
rs12516
0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16940
rs16940
0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs397509062
rs397509062
1.000 0.080 17 43104223 missense variant A/G snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs398122697
rs398122697
0.925 0.080 17 43049170 missense variant A/G snv 4.0E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs530464947
rs530464947
1.000 0.080 17 43092137 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs747364414
rs747364414
0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs799917
rs799917
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs80357007
rs80357007
1.000 0.080 17 43051107 missense variant C/A;T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80357125
rs80357125
0.882 0.080 17 43063940 missense variant C/A;G;T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs876660702
rs876660702
0.851 0.160 17 43063333 splice region variant C/T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 1998 1998