rs4785763

This is a coding sequence variant variant in the AFG3L1P gene.

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GWAS Catalog Trait Associations (1)

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

melanoma

Bishop DT et al. “Genome-wide association study identifies three loci associated with melanoma risk.” Nature Genetics 41(8):920-5 (2009)
Allele A
OR 1.36
p 6.0e-22
N 5,456
Large GWAS
European
Ransohoff KJ et al. “Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.” Oncotarget 8(11):17586-17592 (2017)
Allele A
OR 1.32
p 6.0e-22
N 291,407
Large GWAS
European
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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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