rs6484161
This is a regulatory region variant variant in the SBF2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
pelvic organ prolapse
Pujol-Gualdo N et al. “Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.” Nature Communications 13(1):3584 (2022)
Allele T
OR 1.06
p 6.0e-9
N 574,377
Large GWAS
European
About SBF2
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
View all SBF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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