rs1720843

This is a intron variant variant in the SERPINB7 gene.

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Research that mentions this SNP (1)

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Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping
AssociationN=2,056Caitrin W. McDonough et al.(2009)· Human Genetics

This linkage and association study examined chromosome 18q21.1-23 in 223 African American families with diabetic nephropathy (DN). Fine mapping with SNPs revealed ordered subset analysis evidence for linkage (LOD 3.9, Δ P=0.0161, NPL P=0.00002) in families with earlier diabetes diagnosis. Dense SNP mapping in 1,029 DN cases and 1,027 controls identified NEDD4L (rs512099, P=0.0006, OR=0.70) and SERPINB7 (rs1720843, P=0.0017, OR=0.65) as candidate susceptibility genes for diabetic nephropathy in African Americans.

Traits studied:Chronic renal failureDiabetic nephropathyEnd-stage renal diseaseType 2 diabetes mellitus
PubMedDOIMetascience Observatory

About SERPINB7

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

View all SERPINB7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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