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: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.030 0.667 3 2012 2017
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2015 2015
dbSNP: rs980303898
rs980303898
GCG ; LOC101929532
4 0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs9582036
rs9582036
FLT1
8 0.776 0.280 13 28311271 intron variant C/A snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs9573163
rs9573163 		2 0.925 0.120 13 73334709 regulatory region variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9564966
rs9564966 		4 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs9543325
rs9543325 		3 0.882 0.200 13 73342491 regulatory region variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs9502893
rs9502893 		5 0.827 0.120 6 1339954 intergenic variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs949647240
rs949647240
TP73
2 0.925 0.120 1 3707693 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs9363918
rs9363918 		3 0.882 0.200 6 68432116 intron variant T/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs935821839
rs935821839
TP73
2 0.925 0.120 1 3727199 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs887303970
rs887303970
SOD3
10 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs879254154
rs879254154
PALB2
4 0.851 0.160 16 23621428 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2011
dbSNP: rs876661110
rs876661110
MSH6 ; FBXO11
2 0.925 0.120 2 47791093 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs876659900
rs876659900
PMS2
3 0.925 0.120 7 5982861 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs80358451
rs80358451
BRCA2
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs7993418
rs7993418
FLT1
2 0.925 0.120 13 28308924 synonymous variant G/A snv 0.80 0.67 0.010 1.000 1 2014 2014
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2014 2014