Variant Detail

RSID rs114566317
HGVS ENSP00000248244.4:p.Thr4Ile
Chromosome 19
Start position4818379
Stop position4818379
Associated gene(s)TICAM1
Mutation typeSNP
Reference G
Alternative A
Associated allele A
Associated African Allele Frequency 0.0045
Consequence Missense Variant
Other population frequencies linkALFA rs114566317

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Zhang_rs114566317 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Critical COVID vs controls TICAM1 rs114566317 Positive Critical None None None

Papers

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