Variant Detail

RSID rs181939581
HGVS ENSP00000270139.3:p.Trp73Cys
Chromosome 21
Start position34713323
Stop position34713323
Associated gene(s)IFNAR1
Mutation typeSNP
Reference G
Alternative C
Associated allele C
Associated African Allele Frequency -
Consequence Missense Variant
Other population frequencies linkALFA rs181939581

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_ rs181939581 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls IFNAR1 rs181939581 Positive Critical None None None

Papers

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