rs58392569
This variant is located in the NUP205 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Identification of rare genetic variants in novel loci associated with Paget’s disease of boneAssociationN=537Mariejka Beauregard et al.(2014)· Human Genetics
This association study identified 126 rare genetic variants in candidate genes within five novel Paget's disease of bone (PDB)-associated loci in a French-Canadian population (240 cases, 297 controls). The study replicated associations with common variants rs484959, rs499345, rs10494112 (1p13 locus) and rs5742915 (15q24 locus). Two rare variants showed marginal association with PDB: rs62620995 (p.Leu397Phe in TM7SF4, p=0.09, RR=2.06) and rs35500845 (c.372+259a>G in CTHRC1, p=0.046, RR=0.65).
About NUP205
This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
View all NUP205 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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