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: rs749495848
rs749495848
TLR4
2 9 117713210 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs780935825
rs780935825
TLR4
1 9 117713547 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs112959008
rs112959008
C5
1 9 121030401 missense variant C/G;T snv 3.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs121909588
rs121909588
C5
2 1.000 0.080 9 120962749 stop gained G/A snv 7.6E-05 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2016 2016
dbSNP: rs11913168
rs11913168 		1 22 30210575 upstream gene variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs4823231
rs4823231
ATXN10
1 22 45692239 intron variant T/A;C snv 0.010 1.000 1 2019 2019