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: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs1001703993
rs1001703993
PPOX
3 0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
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: rs1008898
rs1008898
C1GALT1
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
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: rs10488764
rs10488764
FDX1
1 1.000 0.120 11 110460907 intron variant G/A snv 0.18 0.020 1.000 2 2015 2015
dbSNP: rs10490571
rs10490571
IL1R1
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1055901
rs1055901
SERPINB7
1 1.000 0.120 18 63805221 3 prime UTR variant T/C snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1055902
rs1055902
SERPINB7
1 1.000 0.120 18 63805309 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2016 2016
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: rs1064607
rs1064607
LPP
5 0.827 0.200 3 188877884 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs11084377
rs11084377
FCAR
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
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: rs11150612
rs11150612 		1 1.000 0.120 16 31346439 intergenic variant G/A snv 0.28 0.700 1.000 1 2014 2014
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: rs11264793
rs11264793
FCRL3
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
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: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs11574637
rs11574637
ITGAX
3 0.882 0.200 16 31357553 missense variant T/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs12022418
rs12022418
LOC105371664
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs12537
rs12537
MTMR3 ; HORMAD2-AS1
5 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.800 1.000 2 2011 2015
dbSNP: rs12615793
rs12615793
ACYP2
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2019 2019