rs1540771

GWAS Catalog Trait Associations (1)

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

freckles

Sulem P et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nature Genetics 39(12):1443-1452 (2007)
Allele A
OR 1.40
p 4.0e-18
N 2,986
Large GWAS
European

Research that mentions this SNP (3)

The effects of aMAP2K5microRNA target site SNP on risk for anxiety and depressive disorders
AssociationN=6,725Kevin P. Jensen et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study identified rs41305272, a predicted miR-330-3p target site SNP in MAP2K5, as associated with anxiety and depressive disorders in 6,725 European-American and African-American subjects. The T-allele was significantly associated with agoraphobia (OR=2.22, p=0.0004 combined sample), panic disorder (OR=1.95, p=0.002), and major depressive disorder (OR=1.48, p=0.01). The rs41305272 SNP is in linkage disequilibrium with a restless legs syndrome GWAS variant and showed pathway enrichment for nervous system development genes.

Traits studied:AgoraphobiaGeneralized Anxiety DisorderMajor Depressive DisorderObsessive-Compulsive DisorderPanic DisorderPost-Traumatic Stress DisorderRestless Legs SyndromeSocial Phobia
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
Association ofCHRNA4polymorphisms with smoking behavior in two populations
AssociationN=3,039Shizhong Han et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This candidate gene association study examined five CHRNA4 SNPs in 1,249 European-Americans and 1,790 African-Americans to evaluate associations with smoking behavior. The synonymous SNP rs1044394 was significantly associated with nicotine dependence (DSM-IV ND: P=0.001; FTND: P=0.01) and remained significant after multiple testing correction for ND (P=0.033). Rs2236196 was associated with cigarettes per day (P=0.003), with similar association patterns observed in both ancestry groups.

Traits studied:Cigarettes per dayFagerstrom Test of Nicotine DependenceNicotine dependenceSmoking behavior

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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