rs12296430

This is a splice region variant variant.

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GWAS Catalog Trait Associations (7)

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

corticoliberin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.15
p 5.0e-117
N 47,745
Large GWAS
European

lymphocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 2.0e-85
N 394,642
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.05
p 2.0e-67
N 445,573
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 3.0e-18
N 417,277
Major Consortium StudyLarge GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.06
p 2.0e-81
N 408,112
Large GWAS
European

lymphocyte percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 5.0e-48
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 6.0e-34
N 408,112
Large GWAS
European
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 0.05
p 8.0e-24
N 171,748
Large GWAS
European

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 7.0e-31
N 408,112
Large GWAS
European

neutrophil 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 0.04
p 3.0e-20
N 171,542
Large GWAS
European

multiple sclerosis

Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele C
OR 1.12
p 7.0e-14
N 38,589
Large GWAS
European

neutrophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 8.0e-18
N 261,847
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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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.

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