Variant Detail

RSID rs121434431
HGVS ENSP00000296795.2:p.Pro554Ser
Chromosome 4
Start position187004500
Stop position187004500
Associated gene(s)TLR3
Mutation typeSNP
Reference C
Alternative T
Associated allele T
Associated African Allele Frequency 0.0002
Consequence Missense Variant
Other population frequencies linkALFA rs121434431

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs121434431 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID-19 vs control TLR3 rs121434431 Positive Critical None None None

Papers

Paper
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19