rs112892337

This is a variant in the ZFAT gene that changes a serine to an cysteine.

▶

GWAS Catalog Trait Associations (2)

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

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)

Allele C

OR 0.14

p 1.0e-23

N 450,243

Major Consortium StudyLarge GWAS

European

systolic blood pressure

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.13

p 2.0e-13

N 928,679

Large GWAS

multi-ancestry

▶

ClinVar annotation

Pathogenic★☆☆☆

3 submitters2 publications

not specified

View on ClinVar →

About ZFAT

This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]