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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2013 2013
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10503019
rs10503019
ATP8B1
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs11575993
rs11575993
SOD2
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12150220
rs12150220
NLRP1
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2017 2017
dbSNP: rs12301088
rs12301088
IFNG-AS1
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
MDM1 ; LOC105369818
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2020 2020
dbSNP: rs1298695421
rs1298695421
HP ; TXNL4B
2 0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1408944
rs1408944
ZMIZ1
2 0.925 0.040 10 79248726 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1534284
rs1534284
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs158676
rs158676
CDK5RAP1
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs16147
rs16147
NPY ; LOC107986777
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs17587
rs17587
PSMB9
8 0.807 0.280 6 32857313 missense variant G/A;T snv 0.24; 4.1E-06; 4.1E-06 0.010 1.000 1 2014 2014