rs4930642

This is a regulatory region variant variant in the TPCN2 gene.

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GWAS Catalog Trait Associations (1)

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

systemic lupus erythematosus

Yin X et al. “Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.” Annals of the Rheumatic Diseases 80(5):632-640 (2021)

Allele A

OR 1.15

p 6.0e-13

N 208,370

Meta-analysisLarge GWAS

East Asian

About TPCN2

This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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