rs12688220

This is a upstream gene variant variant in the MORC4 gene.

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GWAS Catalog Trait Associations (4)

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

pancreatitis

Whitcomb DC et al. “Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.” Nature Genetics 44(12):1349-54 (2012)
Allele T
OR 1.39
p 2.0e-22
N 5,183
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.12
p 1.0e-10
N 658,200
Large GWAS
multi-ancestry

acute pancreatitis

Bourgault J et al. “Proteome-Wide Mendelian Randomization Identifies Causal Links Between Blood Proteins and Acute Pancreatitis.” Gastroenterology 164(6):953-965.e3 (2023)
Allele T
OR 0.12
p 2.0e-20
N 855,309
Large GWAS
European

cholelithiasis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 2.0e-11
N 665,111
Large GWAS
multi-ancestry

type 2 diabetes mellitus

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 2.0e-9
N 667,504
Large GWAS
multi-ancestry

About MORC4

In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

View all MORC4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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