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: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.700 0
dbSNP: rs34301344
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.040 1.000 4 2006 2006
dbSNP: rs755100942
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.040 1.000 4 2006 2006
dbSNP: rs3803185
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.030 1.000 3 2006 2006
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2005 2008
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2005 2008
dbSNP: rs144567652
rs144567652
FANCM
0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2015 2017
dbSNP: rs28363284
rs28363284
RAD51D ; RAD51L3-RFFL
0.882 0.080 17 35103294 missense variant T/C snv 9.7E-03 1.1E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 0.500 2 2004 2009
dbSNP: rs28997576
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2006 2012
dbSNP: rs34434221
rs34434221
AKAP13
0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2006 2007
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2005 2008
dbSNP: rs886039958
rs886039958
BRCA1
0.882 0.080 17 43093956 frameshift variant A/-;AA delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 1.000 2 2006 2007
dbSNP: rs1042028
rs1042028
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 < 0.001 1 2010 2010
dbSNP: rs1045485
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2006 2006
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2014 2014
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
dbSNP: rs1060915
rs1060915
BRCA1
1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2014 2014
dbSNP: rs1064795860
rs1064795860
TP53
1.000 0.080 17 7675155 missense variant G/A snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2004 2004
dbSNP: rs11075884
rs11075884 		1.000 0.080 16 71321332 intergenic variant A/C;G snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2013 2013
dbSNP: rs11200014
rs11200014
FGFR2
0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2012 2012
dbSNP: rs1131691036
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2014 2014
dbSNP: rs113211432
rs113211432
BARD1
0.882 0.080 2 214767532 frameshift variant -/TG delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2006 2006
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2015 2015
dbSNP: rs1186364060
rs1186364060
HFM1
1.000 0.080 1 91353084 missense variant C/T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2006 2006