rs258322

This variant is located in the CDK10 gene.

GWAS Catalog Trait Associations (6)

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

melanoma

Allele A
OR 1.67
p 3.0e-27
N 5,456
Large GWAS
European
Allele A
OR 1.67
p 3.0e-27
N 291,407
Large GWAS
European
Allele A
OR 1.70
p 3.0e-27
N 10,422
Large GWAS
European
Allele A
OR 1.50
p 2.0e-9
N 6,122
Large GWAS
European

hair color

Allele T
OR 0.36
p 2.0e-23
N 2,287
Large GWAS
European

BMI-adjusted waist circumference

Allele A
OR 0.03
p 3.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European

body weight

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 3.0e-10
N 525,535
Large GWAS
multi-ancestry

body height

Allele A
OR 0.02
p 2.0e-12
N 455,180
Large GWAS
Hispanic or Latin American

Research that mentions this SNP (1)

Association of TGFβ1 and clinical factors with scar outcome following melanoma excision
AssociationN=202Ward SV et al.(2012)· Archives of Dermatological Research

Genetic association study of 202 melanoma patients examining SNPs in 24 candidate genes related to pigmentation and wound healing in relation to scar outcome. SNP rs8110090 in TGFβ1 was significantly associated with poorer scar outcomes (p=0.0002). Clinical factors including younger age, shorter time since surgery, and presence of infection or eczema were also associated with worse scarring.

Traits studied:Scar heightScar outcome following melanoma excisionScar vascularityWound healing

About CDK10

The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

View all CDK10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…