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: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.020 1.000 2 2015 2017
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1461664423
rs1461664423
STXBP1
2 1.000 0.080 9 127658446 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs185005213
rs185005213
MNS1 ; TEX9
1 15 56443817 stop gained G/A;T snv 2.5E-04; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs398122855
rs398122855
PRPS1
5 0.882 0.240 X 107642384 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs4794820
rs4794820
LRRC3C
9 0.790 0.160 17 39933091 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6967330
rs6967330
CDHR3
8 0.827 0.120 7 106018005 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2018 2018
dbSNP: rs7253490
rs7253490 		1 19 22110904 intergenic variant C/A snv 0.38 0.010 < 0.001 1 2019 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2020 2020