Variant Detail

RSID rs765147452
HGVS ENSP00000380697.1:p.Arg382Gln
Chromosome 11
Start position613337
Stop position613337
Associated gene(s)IRF7
Mutation typeSNP
Reference C
Alternative T
Associated allele T
Associated African Allele Frequency -
Consequence Missense Variant
Other population frequencies linkALFA rs765147452

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs765147452 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IRF7 rs765147452 Positive Critical None None None

Papers

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