rs7776725

This is a intron variant variant in the FAM3C gene.

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GWAS Catalog Trait Associations (3)

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

radius bone mineral density

Zheng HF et al. “Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.” Nature 526(7571):112-7 (2015)

Allele C

OR 0.19

p 1.0e-25

N 8,143

Large GWAS

European

bone tissue density

Kemp JP et al. “Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.” Plos Genetics 10(6):e1004423 (2014)

Allele C

OR 0.16

p 6.0e-20

N 9,416

Large GWAS

multi-ancestry

Cho YS et al. “A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.” Nature Genetics 41(5):527-34 (2009)

Allele C

OR —

p 1.0e-11

N 8,842

Large GWAS

East Asian

hip bone mineral density

Choi HJ et al. “Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene.” Bone 91:113-21 (2016)

Allele C

OR 0.12

p 9.0e-9

N 2,729

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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A follow-up association study of two genetic variants for bone mineral density variation in Caucasians

AssociationN=3,279Zhang LS et al.(2012)· Osteoporosis International

This replication study tested two genetic variants (rs7776725 and rs1721400) for association with bone mineral density (BMD) in Caucasian populations. The authors found that rs7776725 shows highly significant association with BMD at multiple clinically relevant skeletal sites (combined p=1.42×10⁻¹⁶ for wrist BMD, p<1.54×10⁻⁵ for hip, p=5.22×10⁻³ for spine), with consistent effect sizes across sites, while rs1721400 showed only borderline association (combined p=0.017).

Traits studied:Bone mineral densityOsteoporosis

PubMed DOI Metascience Observatory

About FAM3C

This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]

rs7776725

GWAS Catalog Trait Associations (3)

radius bone mineral density

bone tissue density

hip bone mineral density

Research that mentions this SNP (1)

About FAM3C

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