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: rs1059394
rs1059394
TYMS ; ENOSF1
2 0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs182176585
rs182176585
NAA16
1 1.000 0.080 13 41372227 missense variant G/A;C snv 1.3E-04; 4.3E-06 0.010 1.000 1 2004 2004
dbSNP: rs2272125
rs2272125
FANCD2 ; FANCD2OS
1 1.000 0.080 3 10096385 synonymous variant T/G snv 0.18 0.25 0.010 1.000 1 2006 2006
dbSNP: rs2987983
rs2987983
ESR2
3 0.882 0.080 14 64296935 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs373204088
rs373204088
SLC38A1
1 1.000 0.080 12 46209126 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3741378
rs3741378
SIPA1
8 0.851 0.080 11 65641466 missense variant C/G;T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs587782555
rs587782555
BARD1
3 0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs730881500
rs730881500
BRCA1
3 0.882 0.080 17 43045769 missense variant G/A snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs7350
rs7350
H2AX
1 1.000 0.080 11 119094338 3 prime UTR variant G/A snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs7759
rs7759
DPAGT1 ; H2AX
3 0.882 0.080 11 119096581 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs968728714
rs968728714
VDR
1 1.000 0.080 12 47904629 start lost A/G;T snv 1.5E-05; 7.4E-06 0.010 1.000 1 2008 2008
dbSNP: rs80356892
rs80356892
BRCA1
1 1.000 0.080 17 43092965 missense variant A/G snv 1.7E-03 4.5E-04 0.700 0
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: rs3212964
rs3212964
ERCC1
4 0.851 0.120 19 45417538 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11655505
rs11655505
BRCA1 ; NBR2
8 0.776 0.160 17 43126360 intron variant G/A snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs2790
rs2790
TYMS ; ENOSF1
2 0.925 0.160 18 673086 3 prime UTR variant A/G;T snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs2233682
rs2233682
PIN1
5 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.020 1.000 2 2012 2014
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2006 2006
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2233678
rs2233678
PIN1 ; LOC100996288
14 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2233679
rs2233679
PIN1 ; LOC100996288
11 0.763 0.360 19 9834678 splice region variant C/T snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 < 0.001 1 2006 2006