rs75712673

This is a regulatory region variant variant in the SOHLH2 gene.

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GWAS Catalog Trait Associations (1)

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

multiple myeloma

Went M et al. “Deciphering the genetics and mechanisms of predisposition to multiple myeloma.” Nature Communications 15(1):6644 (2024)

Allele G

OR 1.29

p 3.0e-10

N 377,127

Large GWAS

European

About SOHLH2

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

View all SOHLH2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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