rs936393
This variant is located in the WBP2 gene.
▶ClinVar annotation
Hearing loss, autosomal recessive 107; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Genome‐wide association studies of cerebral white matter lesion burdenMeta-analysisN=12,385Fornage M. et al.(2011)· Annals of Neurology
Genome-wide meta-analysis of 9,361 Europeans identified six genome-wide significant SNPs on chromosome 17q25 associated with white matter hyperintensity (WMH) burden. The most significant SNP, rs3744028 (P = 4.0×10⁻⁹ discovery, P = 1.3×10⁻⁷ replication, P = 4.0×10⁻¹⁵ combined), and rs1055129 were replicated in 3,024 additional individuals. Risk alleles increased WMH burden by 4-8% of mean burden.
About WBP2
The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
View all WBP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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