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: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11598564
rs11598564 		3 0.925 0.200 10 101204847 intergenic variant G/A snv 0.45 0.020 1.000 2 2013 2019
dbSNP: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.100 1.000 10 2013 2019
dbSNP: rs1322331
rs1322331
LBX1
2 0.925 0.200 10 101226832 3 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs625039
rs625039
LBX1-AS1
3 0.925 0.200 10 101233892 intron variant G/A snv 0.22 0.030 1.000 3 2013 2019
dbSNP: rs678741
rs678741
LBX1-AS1
4 0.851 0.200 10 101237824 intron variant G/A snv 0.51 0.030 1.000 3 2015 2019
dbSNP: rs11190878
rs11190878
LBX1-AS1
1 1.000 0.160 10 101250151 intron variant A/G snv 0.21 0.020 1.000 2 2015 2018
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.020 0.500 2 2018 2020
dbSNP: rs11097773
rs11097773
SLC39A8
1 1.000 0.160 4 102304356 synonymous variant T/C snv 0.17 0.15 0.010 1.000 1 2020 2020
dbSNP: rs5742612
rs5742612
IGF1 ; LOC105369944
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.020 1.000 2 2013 2017
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 < 0.001 1 2010 2010
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
7 0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs10269151
rs10269151
GPER1 ; C7orf50
1 1.000 0.160 7 1087240 5 prime UTR variant G/A snv 4.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2006 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs201340156
rs201340156
NR5A1
3 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs687621
rs687621
ABO
18 0.851 0.240 9 133261662 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs9403380
rs9403380
ADGRG6
1 1.000 0.160 6 142331279 intron variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs7774095
rs7774095
ADGRG6
3 1.000 0.160 6 142349725 intron variant C/A snv 0.37 0.020 1.000 2 2015 2017
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.030 1.000 3 2015 2018
dbSNP: rs41289839
rs41289839
ADGRG6
1 1.000 0.160 6 142383933 intron variant G/A snv 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs7755109
rs7755109
ADGRG6
3 1.000 0.160 6 142429255 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs2900333
rs2900333
ATF7IP
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2011 2011