Variant Detail

RSID rs746291558
HGVS ENSP00000270139.3:p.Ser422Arg
Chromosome 21
Start position34725184
Stop position34725184
Associated gene(s)IFNAR1
Mutation typeSNP
Reference A
Alternative C
Associated allele C
Associated African Allele Frequency -
Consequence Missense Variant
Other population frequencies linkALFA rs746291558

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs746291558 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IFNAR1 rs746291558 Positive Critical None None None

Papers

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