rs4747203
This variant is located in the CDH23;PSAP 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.
granulins measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.28
p 2.0e-83
N 10,708
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
8 submitters2 publicationsnot specified; Atypical Gaucher Disease; Metachromatic leukodystrophy; not provided; Combined PSAP deficiency; Galactosylceramide beta-galactosidase deficiency; Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Sphingolipid activator protein 1 deficiency; CDH23-related disorder
View on ClinVar →This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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