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: rs1060502346
rs1060502346
BRCA1
0.925 0.080 17 43106513 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs1060502347
rs1060502347
BRCA1
1.000 0.080 17 43091902 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs11655505
rs11655505
BRCA1 ; NBR2
0.776 0.160 17 43126360 intron variant G/A snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2010 2010
dbSNP: rs1216516227
rs1216516227
BRCA1
0.925 0.080 17 43094612 missense variant T/C snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs12516
rs12516
BRCA1
0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs1252889664
rs1252889664
BRCA1
0.925 0.080 17 43093409 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs1296005499
rs1296005499
BRCA1
1.000 0.080 17 43045746 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs1328261486
rs1328261486
BRCA1
0.925 0.080 17 43094258 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs1418676444
rs1418676444
BRCA1
0.925 0.080 17 43094626 missense variant G/A snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2012 2012
dbSNP: rs1450793674
rs1450793674
BRCA1
1.000 0.080 17 43091642 missense variant A/G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs1489545368
rs1489545368
BRCA1
0.925 0.080 17 43067643 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs1555580883
rs1555580883
BRCA1
1.000 0.080 17 43071096 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs16940
rs16940
BRCA1
0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs16941
rs16941
BRCA1
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2004 2004
dbSNP: rs16942
rs16942
BRCA1
0.882 0.080 17 43091983 missense variant T/A;C snv 0.35 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2011
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2002 2018
dbSNP: rs1799965
rs1799965
BRCA1
0.925 0.080 17 43097246 splice region variant G/A snv 1.5E-03 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2010 2010
dbSNP: rs1799966
rs1799966
BRCA1
0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2014 2019
dbSNP: rs1799967
rs1799967
BRCA1
0.925 0.080 17 43070958 missense variant C/T snv 1.8E-02 1.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs1800709
rs1800709
BRCA1
0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 1996 1996
dbSNP: rs1800744
rs1800744
BRCA1
0.925 0.080 17 43074471 missense variant C/A snv 2.4E-03 2.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2002 2002
dbSNP: rs1800747
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1800751
rs1800751
BRCA1
0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs183557525
rs183557525
BRCA1
0.925 0.080 17 43115753 missense variant G/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs190900046
rs190900046
BRCA1
0.827 0.160 17 43104197 synonymous variant A/C snv 8.0E-06 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014