Variant Detail

RSID rs199550479
HGVS ENSP00000471896.1:p.Asn146Lys
Chromosome 19
Start position50165845
Stop position50165845
Associated gene(s)IRF3
Mutation typeSNP
Reference G
Alternative C
Associated allele C
Associated African Allele Frequency 0
Consequence Missense Variant
Other population frequencies linkALFA rs199550479

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs199550479 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IRF3 rs199550479 Positive Critical None None None

Papers

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