Variant Detail

RSID rs756347258
HGVS ENSP00000380697.1:p.Gln198Ter
Chromosome 11
Start position614300
Stop position614300
Associated gene(s)IRF7
Mutation typeSNP
Reference G
Alternative A
Associated allele A
Associated African Allele Frequency -
Consequence Non sense
Other population frequencies linkALFA rs756347258

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs756347258 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IRF7 rs756347258 Positive Critical None None None

Papers

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