Variant Detail

RSID rs753582183
HGVS ENSP00000380697.1:p.Gly260ArgfsTer3
Chromosome 11
Start position613966
Stop position613979
Associated gene(s)IRF7
Mutation typeInDel
Reference CGGGCTGGGGCCCG
Alternative C
Associated allele None
Associated African Allele Frequency -
Consequence Frameshift mutation
Other population frequencies linkALFA rs753582183

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs753582183 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IRF7 rs753582183 Positive Critical None None None

Papers

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