rs1044032

This is a protein-altering variant in the SQOR gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

small integral membrane protein 9 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.17

p 4.0e-24

N 10,708

Large GWAS

European

HLA class II histocompatibility antigen gamma chain measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.14

p 8.0e-17

N 10,708

Large GWAS

European

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Research that mentions this SNP (1)

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Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene

AssociationN=3,033Cai X. et al.(2018)· Osteoporosis International

This candidate gene association study of 1006 postmenopausal osteoporosis cases and 2027 controls from Han Chinese women investigated the SQRDL gene. The missense SNP rs1044032 (OR=0.80, P=6.42×10^-5) was significantly associated with postmenopausal osteoporosis, with the C allele conferring a 20% protective effect. Two additional SNPs (rs2028589 and rs12913151) were significantly associated with bone mineral density.

Traits studied:Bone mineral densityPostmenopausal osteoporosis

PubMed DOI Metascience Observatory

About SQOR

The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]