rs177430

This is a downstream gene variant variant in the NPC1 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body weight

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele T
OR 0.04
p 1.0e-11
N 57,043
Large GWAS
European

body mass index

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele T
OR 0.04
p 2.0e-9
N 56,793
Large GWAS
European

intelligence

Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)
Allele T
OR 0.02
p 3.0e-8
N 248,482
Large GWAS
European

serum alanine aminotransferase amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 3.0e-8
N 494,681
Large GWAS
multi-ancestry

hip circumference

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele T
OR 0.05
p 4.0e-8
N 37,078
Large GWAS
European

About NPC1

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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