rs7085433

This is a regulatory region variant variant in the TIMM23 gene.

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GWAS Catalog Trait Associations (3)

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

erythrocyte count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 9.0e-13
N 153,512
Large GWAS
East Asian

hemoglobin measurement, mean corpuscular hemoglobin

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele A
OR 0.10
p 6.0e-10
N 14,362
Large GWAS
East Asian

erythrocyte volume

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele A
OR 0.10
p 7.0e-9
N 14,364
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Investigation of the Relationship Between Prostate Cancer andMSMBandNCOA4Genetic Variants and Protein Expression
AssociationN=2,591Liesel M. FitzGerald et al.(2013)· Human Mutation

In a population-based study of 1,323 prostate cancer cases and 1,268 controls, the MSMB promoter SNP rs10993994:C>T was associated with increased prostate cancer risk (OR=1.31), with the variant allele associated with decreased PSP94 protein expression, particularly in tumor tissue. The NCOA4 SNP rs7350420:T>C showed a 15% reduction in cancer risk (OR=0.85, p=5.6×10⁻³), but this association was not independent of rs10993994:C>T. Protein expression analyses of 519 prostate tissue samples confirmed rs10993994:C>T's primary effect on PSP94 levels, with moderate associations observed for rs10761618:T>C and rs7085433:G>A with NCOA4 expression.

Traits studied:Gleason scorePSA levelsProstate cancerTumor stage
PubMedDOIMetascience Observatory

About TIMM23

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]

View all TIMM23 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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