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: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1048369
rs1048369
GPC4
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10496040
rs10496040
RTN4 ; LOC105374662
1 1.000 0.120 2 55080510 5 prime UTR variant C/A snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs1059449
rs1059449
HLA-A
1 1.000 0.120 6 29942921 missense variant G/A snv 6.1E-02 9.0E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs10898880
rs10898880
ATG16L2 ; LOC107984421
3 0.925 0.160 11 72814066 upstream gene variant C/A snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs11081899
rs11081899
ZNF24
4 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11158728
rs11158728
RAD51B
1 1.000 0.120 14 68295488 intron variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11169571
rs11169571
ATF1
4 0.851 0.200 12 50819982 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs11237828
rs11237828
TENM4 ; MIR5579
1 1.000 0.120 11 79422176 mature miRNA variant T/C snv 0.12 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2014 2014
dbSNP: rs115214213
rs115214213
CD44
1 1.000 0.120 11 35231896 3 prime UTR variant T/C snv 4.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs11730582
rs11730582
SPP1
10 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs117465650
rs117465650
RTN4
1 1.000 0.120 2 55050090 missense variant C/T snv 0.12 6.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs117565607
rs117565607
TRIM26
1 1.000 0.120 6 30204594 intron variant T/A snv 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs11865086
rs11865086
MAPK3
1 1.000 0.120 16 30119172 intron variant C/A snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs12220909
rs12220909
FRMD4A ; MIR4293
5 0.827 0.240 10 14383222 mature miRNA variant G/C;T snv 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs12769316
rs12769316
NFKB2
3 0.925 0.160 10 102392994 upstream gene variant G/A snv 0.13 0.010 1.000 1 2015 2015