Variant Detail

RSID rs1800450
HGVS NC_000010.11:g.52771475C>T
Chromosome 10
Start position52771475
Stop position52771475
Associated gene(s)MBL2
Mutation typeSNP
Reference C
Alternative T
Associated allele T
Associated African Allele Frequency 0.0379
Consequence Missense Variant
Other population frequencies linkALFA rs1800450

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Speletas_rs1800450 MBL deficiency-causing B allele (rs1800450) as a risk factor for severe COVID-19 B-allele vs COVID-19 associated pnemonia MBL2 rs1800450 positive Severe None 1.76 0.037
Medetalibeyoglu_rs18000450 Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection COVID-19 cases with homozygous rs1800450 mutation vs control MBL2 rs1800450 positive Susceptibility None 12.1 0.001
Medetalibeyoglu_rs18000450 Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection COVID-19 cases with heterozygous mutation vs COVID-19 cases without mutation MBL2 rs1800450 positive Severe None 2.9 0.001
Medetalibeyoglu_rs18000450 Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection COVID-19 cases with homozygous mutation vs COVID-19 cases without mutation MBL2 rs1800450 positive Critical None 19.6 0.001
Medetalibeyoglu_rs18000450 Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection COVID-19 cases with heterozygous mutation vs COVID-19 cases without mutation MBL2 rs1800450 positive Critical None 6.9 0.001
Pehlivan_rs1800450 Investigation of MBL2 and NOS3 functional gene variants in suspected COVID- 19 PCR (–) patients COVID-19 positive vs healthy controls MBL2 rs1800450 negative Susceptibility None None 0.001

Papers

Paper
MBL deficiency-causing B allele (rs1800450) as a risk factor for severe COVID-19
Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection
Investigation of MBL2 and NOS3 functional gene variants in suspected COVID- 19 PCR (–) patients