Variant Detail

RSID rs970393690
HGVS ENSP00000380697.1:p.Pro377AlafsTer38
Chromosome 11
Start position613353
Stop position613353
Associated gene(s)IRF7
Mutation typeInDel
Reference G
Alternative GC
Associated allele None
Associated African Allele Frequency -
Consequence Frameshift mutation
Other population frequencies linkALFA rs970393690

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs970393690 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IRF7 rs970393690 Positive Critical None None None

Papers

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