rs17484848

▶

GWAS Catalog Trait Associations (6)

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

eosinophil percentage of granulocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.07
p 9.0e-32
N 170,536
Large GWAS
European

neutrophil percentage of granulocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.07
p 6.0e-31
N 170,672
Large GWAS
European

eosinophil percentage of leukocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.07
p 1.0e-30
N 172,378
Large GWAS
European

eosinophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.06
p 1.0e-26
N 172,275
Large GWAS
European

basophil count, eosinophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.06
p 3.0e-24
N 171,771
Large GWAS
European

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.03
p 1.0e-10
N 219,872
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Identification of modifier genes for cutaneous malignant melanoma in melanoma‐prone families with and without CDKN2A mutations
AssociationN=537Xiaohong Rose Yang et al.(2009)· International Journal of Cancer

This study identified modifier genes for cutaneous malignant melanoma (CMM) in 537 individuals from 28 melanoma-prone families (107 CMM cases), with and without CDKN2A mutations. Using conditional logistic regression and pathway-based analysis of 1,536 SNPs in 152 genes involved in DNA repair, apoptosis, and immune response pathways, the study found that IL9 remained significant after Bonferroni correction (P<0.05), with other candidate genes including FAS, BCL7A, CASP14, TRAF6, WRN, IL10RB, TNFSF8, TNFRSF9, and JAK3 showing associations with CMM risk (P<0.01, gene-based test). SNPs rs12827036 (BCL7A), rs7270207 (BCL2L1), and rs2069882 (IL9) showed significant interactions with CDKN2A status.

Traits studied:Cutaneous malignant melanoma (CMM)Dysplastic nevi (DN)
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.

Community Wiki

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

Comments

Sign in to join the discussion.

Loading comments…