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: rs2048718
rs2048718
BRIP1
5 0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42 0.020 0.500 2 2016 2018
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.020 1.000 2 2013 2016
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2013 2018
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.020 1.000 2 2016 2016
dbSNP: rs266085
rs266085
CXCL12
5 0.851 0.200 10 44378805 intron variant C/T snv 0.32 0.020 1.000 2 2009 2015
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2009 2012
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.020 1.000 2 2000 2004
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2015 2015
dbSNP: rs8067378
rs8067378 		12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.710 1.000 2 2013 2016
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.020 1.000 2 2013 2018
dbSNP: rs1003897973
rs1003897973
TRIP10 ; LOC107985302
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs1007541
rs1007541
FSHR
4 0.882 0.080 2 48981895 intron variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1030389
rs1030389
PWAR6 ; SNHG14
3 0.882 0.080 15 25032641 non coding transcript exon variant A/G snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs10426502
rs10426502
MYDGF ; TNFAIP8L1
3 0.882 0.080 19 4651257 intron variant G/A snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042725
rs1042725
HMGA2
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1045935
rs1045935
PWAR6 ; SNHG14
3 0.882 0.080 15 25036439 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1048512
rs1048512
KCNJ10 ; PIGM
3 0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1057519911
rs1057519911
MAPK1
10 0.776 0.160 22 21772875 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1060555
rs1060555
MYDGF ; TNFAIP8L1
3 0.882 0.080 19 4652810 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10802996
rs10802996
EXO1
5 0.882 0.080 1 241847325 upstream gene variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs10815144
rs10815144
JAK2 ; INSL6
3 0.882 0.080 9 5010192 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
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 2013 2013