COVID image

COHG-SA

Variant Detail

RSID rs12329760
HGVS NM_001135099.1:c.589G>A / NC_000021.9:g.41480570C>T / NC_000021.8:g.42852497C>T
Chromosome 21
Start position41480570
Stop position41480570
Associated gene(s)TMPRSS2
Mutation typeSNP
Reference C
Alternative T
Associated allele C/A /T
Associated African Allele Frequency 0.29025
Consequence Missense Variant
Other population frequencies linkALFA rs12329760

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Latini_rs12329760 COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells COVID-19 positive vs GnomAD TMPRSS2 rs12329760 Negative Susceptibility 0.17 None 0.0228
Monticelli_rs12329760 Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Mild vs severe TMPRSS2 rs12329760 Positive Mild 0.224393 0.7601 0.0289
Monticelli_rs12329760 Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Young males TMPRSS2 rs12329760 Positive Mild 0.224393 0.5804 0.02
Monticelli_rs12329760 Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Elderly women TMPRSS2 rs12329760 Positive Mild 0.224393 0.5346 0.0347
Monticelli_rs12329760 Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Young males with comorbidities TMPRSS2 rs12329760 Positive Mild 0.224393 0.2969 0.0057
Monticelli_rs12329760 Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Elderly women, comorbidities TMPRSS2 rs12329760 Positive Mild 0.224393 0.4667 0.0391
Wulandari_rs12329760 Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients Severity with SNP vs morbidity TMPRSS2 rs12329760 positive Morbidity None None 0.042
David_rs12329760 A common TMPRSS2 variant has a protective effect against severe COVID-19 COVID-19 severe EUR cases vs control SARS-CoV-2 negative TMPRSS2 rs12329760 negative Critical None 0.87 0.01
David_rs12329760 A common TMPRSS2 variant has a protective effect against severe COVID-19 Trans-ancestry metanalysis severe vs control SARS-CoV2 negative TMPRSS2 rs12329760 negative Critical None 0.84 0.00058
David_rs12329760 A common TMPRSS2 variant has a protective effect against severe COVID-19 COVID HGI validation hospitalisation vs control general population TMPRSS2 rs12329760 negative Severe None 0.95 0.00000472
Li_rs12329760 Genome-wide association study of COVID-19 severity among the Chinese population Meta-analysis (T allele) TMPRSS2 rs12329760 negative Severe None 0.81 0.01

Papers

Paper
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women
Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients
A common TMPRSS2 variant has a protective effect against severe COVID-19
Genome-wide association study of COVID-19 severity among the Chinese population