Variant Detail

RSID rs4646994
HGVS NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
Chromosome 17
Start position63488530
Stop position63488543
Associated gene(s)ACE
Mutation typeInDel
Reference -
Alternative -
Associated allele homozygous insertion/deletion of Alu repetitive element
Associated African Allele Frequency -
Consequence Intronic
Other population frequencies linkALFA rs4646994

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Gomez_rs4646994 Angiotensin-converting enzymes (ACE, ACE2) gene variants and COVID-19 outcome Homozygous deletion vs severe COVID cases ACE rs4646994 positive Severe None None 0.049
Gomez_rs4646994 Angiotensin-converting enzymes (ACE, ACE2) gene variants and COVID-19 outcome Homozygous deletion vs severe COVID males vs females ACE rs4646994 positive Severe None None 0.043
Hubacek_rs4646994 ACE I/D polymorphism in Czech first-wave SARS-CoV-2-positive survivors I/I homozygous symptomatic COVID cases vs asymptomatic ACE rs4646994 positive Mild None 1.78 0.002

Papers

Paper
Angiotensin-converting enzymes (ACE, ACE2) gene variants and COVID-19 outcome
ACE I/D polymorphism in Czech first-wave SARS-CoV-2-positive survivors