rs1838105

This variant is located in the GOSR2 gene.

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GWAS Catalog Trait Associations (2)

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

Cleft palate, cleft lip

Yu Y et al. “Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.” Nature Communications 8:14364 (2017)

Allele A

OR 1.22

p 1.0e-11

N 6,084

Large GWAS

East Asian

corneal resistance factor

He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)

Allele A

OR 0.03

p 2.0e-9

N 123,734

Major Consortium StudyLarge GWAS

European

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Research that mentions this SNP (1)

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Association between PTCH1 and RAD54B single‐nucleotide polymorphisms and non‐syndromic orofacial clefts in a northern Chinese population

AssociationN=1,062Xiaotong Liu et al.(2018)· The Journal of Gene Medicine

This case-control association study examined six SNPs (rs10512248 in PTCH1, rs12681366 and rs958447 in RAD54B, rs13317 in FGFR1, rs1838105 and rs4968247 in WNT9B) in 596 NSOC patients and 466 controls from a Northern Chinese population. Two SNPs showed significant associations with non-syndromic orofacial clefts: PTCH1 rs10512248 (P=0.020) and RAD54B rs12681366, where the CT genotype showed decreased NSOC risk (OR=0.62, 95%CI=0.46-0.82, P=0.001). This replication study confirms GWAS findings in a Northern Chinese population and suggests RAD54B rs12681366 plays a protective role against orofacial clefts.

Traits studied:Non-syndromic orofacial clefts

PubMed DOI Metascience Observatory

About GOSR2

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]