rs6059655
This is a upstream gene variant variant in the RALY gene.
▶GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
suntan
Visconti A et al. “Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.” Nature Communications 9(1):1684 (2018)
Allele A
OR 0.53
p 1.0e-315
N 121,296
Large GWAS
European
hair color
Morgan MD et al. “Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.” Nature Communications 9(1):5271 (2018)
Allele A
OR 1.88
p 2.0e-308
N 299,651
Major Consortium StudyLarge GWAS
European
skin cancer
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 A
OR 0.29
p 2.0e-227
N 431,198
Major Consortium StudyLarge GWAS
European
actinic keratosis
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 A
OR 0.27
p 1.0e-218
N 412,119
Major Consortium StudyLarge GWAS
European
Kim Y et al. “Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.” Communications Biology 5(1):386 (2022)
Allele A
OR 1.30
p 3.0e-37
N 92,240
Large GWAS
European
cutaneous melanoma
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 A
OR 0.31
p 3.0e-157
N 434,871
Major Consortium StudyLarge GWAS
European
Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele A
OR 1.41
p 5.0e-98
N 411,948
Large GWAS
European
strand of hair color
Hysi PG et al. “Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.” Nature Genetics 50(5):652-656 (2018)
Allele A
OR 0.18
p 1.0e-100
N 290,891
Meta-analysisLarge GWAS
European
basal cell carcinoma
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 A
OR 0.26
p 7.0e-79
N 435,548
Major Consortium StudyLarge GWAS
European
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele A
OR 0.80
p 1.0e-72
N 802,297
Meta-analysisLarge GWAS
European
Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele A
OR 1.27
p 3.0e-70
N 651,138
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.24
p 2.0e-13
N 394,626
Large GWAS
European
Adolphe C et al. “Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.” Genome Medicine 13(1):19 (2021)
Allele A
OR 0.24
p 3.0e-45
N 392,871
Large GWAS
European
Chahal HS et al. “Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.” Nature Communications 7:12510 (2016)
Allele A
OR 1.24
p 3.0e-26
N 275,209
Large GWAS
European
keratinocyte carcinoma
Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele A
OR 1.28
p 5.0e-78
N 358,840
Large GWAS
European
skin disease
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 A
OR 0.19
p 3.0e-75
N 574,078
Major Consortium StudyLarge GWAS
multi-ancestry
nevus count, cutaneous melanoma
Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele A
OR —
p 5.0e-62
N 477,725
Large GWAS
European
▶Research that mentions this SNP (1)
▶Technical note: Quantitative measures of iris color using high resolution photographsAssociationN=402Melissa Edwards et al.(2012)· American Journal of Physical Anthropology
Technical note: Quantitative measures of iris color using high resolution photographs
AssociationN=402Melissa Edwards et al.(2012)· American Journal of Physical Anthropology
This genome-wide association study (GWAS) of pigmentary traits in East Asian populations (N=305 skin, N=342 iris) identifies a genome-wide significant signal for iris color in the OCA2 region, with rs1800414 (His615Arg) explaining 11.9%, 10.4%, and 6% of variation in b*, a*, and L* coordinates respectively. While no genome-wide significant signals were detected for skin pigmentation, rs2373391 in ZNF804B was replicated in independent Chinese samples (p=0.003).
Traits studied:Iris colorSkin pigmentation
About RALY
This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
View all RALY variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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