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: rs183557525
rs183557525
BRCA1
0.925 0.080 17 43115753 missense variant G/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs201596327
rs201596327
BRCA1
0.925 0.080 17 43095890 missense variant G/A snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs273898682
rs273898682
BRCA1
0.925 0.080 17 43093245 missense variant T/A;C snv 1.4E-04 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs28897680
rs28897680
BRCA1
0.925 0.080 17 43093471 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs369982706
rs369982706
BRCA1
0.925 0.080 17 43091951 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs3737559
rs3737559
BRCA1
0.882 0.120 17 43082287 intron variant C/T snv 6.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs397507242
rs397507242
BRCA1
0.925 0.080 17 43063912 missense variant A/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs397509171
rs397509171
BRCA1
0.851 0.200 17 43076573 stop gained G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2005 2005
dbSNP: rs397509205
rs397509205
BRCA1
0.882 0.080 17 43070984 stop gained C/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs41293463
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs431825395
rs431825395
BRCA1
0.925 0.080 17 43092125 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs431825416
rs431825416
BRCA1
0.925 0.080 17 43051093 missense variant A/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4986850
rs4986850
BRCA1
0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs4986854
rs4986854
BRCA1
0.925 0.080 17 43071031 missense variant A/G snv 1.5E-03 9.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs55770810
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs55906931
rs55906931
BRCA1
0.925 0.080 17 43094075 missense variant A/G;T snv 2.8E-04; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs55971303
rs55971303
BRCA1
0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs56012641
rs56012641
BRCA1
0.925 0.080 17 43093883 missense variant T/G snv 2.6E-04 2.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs56187033
rs56187033
BRCA1
0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs730881446
rs730881446
BRCA1
0.925 0.080 17 43049149 missense variant T/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs730881496
rs730881496
BRCA1
0.925 0.080 17 43063340 missense variant A/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs730881500
rs730881500
BRCA1
0.882 0.080 17 43045769 missense variant G/A snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs754763517
rs754763517
BRCA1 ; NBR2
0.925 0.080 17 43124091 synonymous variant A/G snv 8.0E-06 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs777515082
rs777515082
BRCA1
0.925 0.080 17 43099811 missense variant T/C;G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015