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: rs2738780
rs2738780
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.080 20 63668461 intron variant T/C snv 0.99 0.010 1.000 1 2016 2016
dbSNP: rs842226
rs842226
MUC4
3 0.882 0.080 3 195751990 non coding transcript exon variant A/G snv 0.95 0.010 1.000 1 2013 2013
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.020 1.000 2 2018 2018
dbSNP: rs2267029
rs2267029
MMP11
3 0.882 0.080 22 23775729 intron variant A/G snv 0.92 0.010 < 0.001 1 2019 2019
dbSNP: rs4978754
rs4978754
ELP1
4 0.851 0.080 9 108884801 intron variant T/C snv 0.92 0.010 1.000 1 2019 2019
dbSNP: rs9915936
rs9915936
AXIN2
5 0.827 0.120 17 65537671 synonymous variant T/C snv 0.90 0.90 0.010 1.000 1 2017 2017
dbSNP: rs2043449
rs2043449
CYP20A1
3 0.882 0.080 2 203251967 missense variant C/T snv 0.94 0.89 0.010 1.000 1 2019 2019
dbSNP: rs2025811
rs2025811
XRN2
3 0.882 0.080 20 21354475 intron variant T/C snv 0.89 0.010 1.000 1 2010 2010
dbSNP: rs3866958
rs3866958
MAPK7 ; B9D1
3 0.882 0.080 17 19377693 intron variant A/C;T snv 0.89 0.010 1.000 1 2013 2013
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.020 1.000 2 2013 2013
dbSNP: rs629367
rs629367
MIR100HG ; MIRLET7A2
11 0.776 0.200 11 122146306 intron variant C/A snv 0.88 0.010 1.000 1 2018 2018
dbSNP: rs2230229
rs2230229
TNFRSF10A
8 0.807 0.120 8 23191779 missense variant C/T snv 0.88 0.86 0.010 1.000 1 2013 2013
dbSNP: rs2929973
rs2929973
CCN4
5 0.851 0.200 8 133230265 3 prime UTR variant G/T snv 0.85 0.010 1.000 1 2014 2014
dbSNP: rs5883064
rs5883064
HOTTIP
3 0.882 0.080 7 27202260 non coding transcript exon variant CT/- delins 0.85 0.010 1.000 1 2016 2016
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.020 0.500 2 2007 2015
dbSNP: rs842461
rs842461
MUC4
3 0.882 0.080 3 195808743 intron variant G/T snv 0.84 0.010 1.000 1 2013 2013
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs3096337
rs3096337
MUC4
3 0.882 0.080 3 195806461 intron variant C/T snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs2158041
rs2158041
AHR
6 0.807 0.160 7 17328796 intron variant T/C snv 0.81 0.010 1.000 1 2009 2009
dbSNP: rs336958
rs336958
HAPLN1
3 0.882 0.080 5 83677577 intron variant T/C snv 0.81 0.010 1.000 1 2019 2019
dbSNP: rs151606
rs151606
FGFR1OP
3 0.882 0.080 6 167016994 intron variant T/A snv 0.81 0.010 1.000 1 2016 2016
dbSNP: rs11514963
rs11514963
MKLN1
1 1.000 0.080 7 131247904 intron variant C/T snv 0.81 0.700 1.000 1 2017 2017
dbSNP: rs465646
rs465646
REV3L ; MFSD4B
3 0.882 0.080 6 111299555 3 prime UTR variant G/A snv 0.80 0.010 1.000 1 2013 2013
dbSNP: rs3131837
rs3131837
RTCA-AS1
3 0.882 0.080 1 100252204 non coding transcript exon variant C/G snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2017 2017