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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2006 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2008
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs121912678
rs121912678
ACVR1
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs143101792
rs143101792
CRP
5 0.851 0.320 1 159714026 stop gained G/C snv 8.8E-05 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs8103142
rs8103142
IFNL3
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.010 1.000 1 2016 2016