rs35785620
This variant is located in the SMPD1 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.
level of sphingomyelin phosphodiesterase in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele T
OR 1.06
p 5.0e-12
N 466
Small GWAS
African American or Afro-Caribbean
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter2 publicationsNiemann-Pick disease, type A;Niemann-Pick disease, type B
View on ClinVar →About SMPD1
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
View all SMPD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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