Source: ALL
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: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.040 1.000 4 2006 2006
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.030 1.000 3 2006 2006
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2008
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2008
dbSNP: rs144567652
rs144567652
FANCM
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.020 1.000 2 2015 2017
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.020 1.000 2 2006 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2008
dbSNP: rs886039958
rs886039958
BRCA1
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.020 1.000 2 2006 2007
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1064795860
rs1064795860
TP53
1 1.000 0.080 17 7675155 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs11075884
rs11075884 		1 1.000 0.080 16 71321332 intergenic variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2014 2014
dbSNP: rs113211432
rs113211432
BARD1
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2005 2005
dbSNP: rs1186364060
rs1186364060
HFM1
1 1.000 0.080 1 91353084 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1302297709
rs1302297709
RAD51C
3 0.882 0.080 17 58703319 missense variant A/G snv 0.010 < 0.001 1 2004 2004
dbSNP: rs1351211430
rs1351211430
ERCC2
4 0.851 0.120 19 45369118 synonymous variant G/A;C snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs147120792
rs147120792
ARL11
6 0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs152451
rs152451
PALB2
1 1.000 0.080 16 23634870 missense variant T/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs17663555
rs17663555
LOC105379030
3 1.000 0.080 5 73136209 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1801201
rs1801201
ERBB2
1 1.000 0.080 17 39723332 missense variant A/C;G snv 4.0E-06; 4.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs2070094
rs2070094
BARD1
3 0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37 0.010 1.000 1 2006 2006