Variant Detail

RSID -
HGVS ENSP00000343957.4:p.Ile141ProfsTer6
Chromosome 21
Start position34621038
Stop position34621051
Associated gene(s)IFNAR2
Mutation typeInDel
Reference AGATTCTTCCTTTT
Alternative A
Associated allele A
Associated African Allele Frequency -
Consequence Frameshift mutation
Other population frequencies linkALFA -

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
van der Made_12905756_12905759del Presence of Genetic Variants Among Young Men With Severe COVID-19 Severe COVID-19 TLR7 - Positive Severe 0.0 None None
Fallerini_c.901T>C Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study Young male severe COVID-19 cases TLR7 - positive Severe None None None

Papers

Paper
Presence of Genetic Variants Among Young Men With Severe COVID-19
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study