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: rs11196418
rs11196418
CASP7
4 0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11196445
rs11196445
CASP7
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2015
dbSNP: rs1045242
rs1045242
TNFAIP8
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1438956733
rs1438956733
FGFR2
2 0.925 0.080 10 121515180 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs55745510
rs55745510
FGFR2
2 0.925 0.080 10 121520039 synonymous variant G/A snv 7.6E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs121918497
rs121918497
FGFR2
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs3759216
rs3759216
CDKN1B ; GPR19
2 0.925 0.080 12 12715152 intron variant G/A snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
15 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs483352909
rs483352909
POLE
11 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs112843513
rs112843513
TOPBP1
4 0.851 0.120 3 133600730 3 prime UTR variant G/- del 0.010 1.000 1 2014 2014
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs759843019
rs759843019
ERCC4
6 0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2009 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs3731127
rs3731127
XPC
2 0.925 0.080 3 14158973 intron variant G/A snv 4.0E-02 0.010 1.000 1 2011 2011