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COHG-SA

Variant Detail

RSID rs2531743
HGVS NC_000003.12:g.45796808G>A
Chromosome 3
Start position45796808
Stop position45796808
Associated gene(s)SLC6A20, LOC107986082,LZTFL1, SACML1, CCR9, FYCO1, XCR1, CCR3, CCR1
Mutation typeTagged SNP
Reference G
Alternative A,C,T
Associated allele A
Associated African Allele Frequency 0.4753
Consequence Upstream transcript variant
Other population frequencies linkALFA rs2531743

Variants

NamePaperDescription of ComparisonGeneRSIDAssociationDisease StatusMAFStatistical Odds RatioStatistical P-value
Horowitz_rs2531743 Common genetic variants identify therapeutic targets for COVID-19 and individuals at high risk of severe disease Meta analysis, External data SLC6A20, LOC107986082,LZTFL1, SACML1, CCR9, FYCO1, XCR1, CCR3, CCR1 rs2531743 Positive Susceptibility 0.42 1.06 0.0009
Horowitz_2_rs2531743 Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease COVID-19 positive vs COVID-19 negative SLC6A20 rs2531743 positive Susceptibility 42.0 0.94 0.000000000003

Papers

Paper
Common genetic variants identify therapeutic targets for COVID-19 and individuals at high risk of severe disease
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease