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: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.040 0.750 4 2010 2017
dbSNP: rs507392
rs507392
EPO
2 0.925 0.160 7 100722313 intron variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs551238
rs551238
EPO
5 0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 0.020 1.000 2 2010 2015
dbSNP: rs1799768
rs1799768
SERPINE1
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs2070682
rs2070682
SERPINE1
1 1.000 0.120 7 101133986 intron variant T/C snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.040 0.750 4 2003 2013
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs5742612
rs5742612
IGF1 ; LOC105369944
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.500 6 2006 2018
dbSNP: rs202069793
rs202069793
LOC107987105
1 1.000 0.120 9 104713014 intergenic variant GA/- delins 0.63 0.700 1.000 1 2019 2019
dbSNP: rs2300993
rs2300993
MAN2A1
1 1.000 0.120 5 109702928 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs12656571
rs12656571
MAN2A1
1 1.000 0.120 5 109742339 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2019 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs11196205
rs11196205
TCF7L2
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1249719
rs1249719
COL27A1
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs142610219
rs142610219
LOC107986902
1 1.000 0.120 8 115906039 intergenic variant A/T snv 2.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs10759931
rs10759931 		9 0.790 0.360 9 117701869 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.020 1.000 2 2014 2015