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: rs5882115
rs5882115
C1GALT1
1 1.000 0.120 7 7233965 intron variant -/C delins 7.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs637571
rs637571
FOSL1
1 1.000 0.120 11 65896875 synonymous variant T/C snv 0.51 0.50 0.010 1.000 1 2014 2014
dbSNP: rs6691569
rs6691569
FCRL3
1 1.000 0.120 1 157678308 3 prime UTR variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs6984215
rs6984215 		1 1.000 0.120 8 7027356 downstream gene variant T/C snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs7170151
rs7170151
RASGRP1
1 1.000 0.120 15 38554477 intron variant C/T snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs7389
rs7389
TREH ; PHLDB1
1 1.000 0.120 11 118657756 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs761991666
rs761991666
C1GALT1
1 1.000 0.120 7 7234516 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7634389
rs7634389
ST6GAL1
1 1.000 0.120 3 187020633 intron variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs77370625
rs77370625
ZNF543
1 1.000 0.120 19 57328138 missense variant C/G snv 5.8E-03 2.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs7763262
rs7763262 		1 1.000 0.120 6 32457105 downstream gene variant T/C snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs7790522
rs7790522
C1GALT1
1 1.000 0.120 7 7242918 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs887280103
rs887280103
ACE
1 1.000 0.120 17 63477294 missense variant C/G snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs978056
rs978056
HECW1
1 1.000 0.120 7 43339245 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11264794
rs11264794
FCRL3
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs2523946
rs2523946
HLA-A ; HCG9
2 0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv 0.800 1.000 2 2011 2015
dbSNP: rs2738058
rs2738058 		2 0.925 0.160 8 6964095 upstream gene variant T/C snv 0.57 0.710 1.000 2 2014 2015
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs7190997
rs7190997
ITGAX
2 1.000 0.120 16 31356857 intron variant T/C snv 0.52 0.710 1.000 2 2015 2019
dbSNP: rs10086568
rs10086568 		2 1.000 0.120 8 7042814 upstream gene variant G/A snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs1047763
rs1047763
C1GALT1
2 0.925 0.120 7 7243938 3 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs1056654
rs1056654
MPHOSPH6
2 0.925 0.160 16 82148406 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1056675
rs1056675
MPHOSPH6
2 0.925 0.160 16 82148329 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11102930
rs11102930
NGF ; NGF-AS1
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs11150619
rs11150619
ITGAX
2 0.925 0.160 16 31365528 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs13124532
rs13124532
PDE5A ; LOC645513
2 1.000 0.120 4 119495290 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010