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: rs1558562
rs1558562
SEC14L5 ; NAGPA-AS1
1 16 5011882 intron variant A/C snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs17234274
rs17234274
LINC02718
1 11 23192820 intron variant A/C snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2231292
rs2231292
BCL2L10
3 1.000 0.040 15 52112665 missense variant A/C snv 0.41 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs2296972
rs2296972
HTR2A ; HTR2A-AS1
4 0.925 0.080 13 46854336 intron variant A/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs2410373
rs2410373 		6 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 0.010 1.000 1 2007 2007
dbSNP: rs2834461
rs2834461 		1 21 34344072 intron variant A/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs314276
rs314276
LIN28B
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs3814057
rs3814057
NR1I2
4 0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs3864659
rs3864659
AGO2
4 0.925 0.080 8 140545763 intron variant A/C snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.010 1.000 1 2019 2019
dbSNP: rs7225787
rs7225787
ZNF652
1 17 49351211 intron variant A/C snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs728619
rs728619
MSH6 ; FBXO11
2 2 47799596 missense variant A/C snv 0.010 1.000 1 2009 2009
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2011 2011
dbSNP: rs7763881
rs7763881
HULC ; LOC100506207
11 0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs867537050
rs867537050
KMT2D
2 12 49050951 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 1.000 9 2006 2013
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.040 1.000 4 2016 2019
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2016
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.020 0.500 2 2009 2015
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.020 0.500 2 2009 2015
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2019 2019