rs12203592
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| (C;T) | 2 | Primarily in Europeans; likely presence of freckles, brown hair and high sensitivity of skin to sun exposure. |
| (T;T) | 2 | Primarily in Europeans; more likely presence of freckles, brown hair and high sensitivity of skin to sun exposure |
| Reference | GRCh37 37.1/131 |
| Chromosome | 6 |
| Position | 396321 |
| Gene | IRF4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12203592 |
| dbSNP (classic) | rs12203592 |
| ClinGen | rs12203592 |
| ebi | rs12203592 |
| HLI | rs12203592 |
| Exac | rs12203592 |
| Gnomad | rs12203592 |
| Varsome | rs12203592 |
| LitVar | rs12203592 |
| Map | rs12203592 |
| PheGenI | rs12203592 |
| Biobank | rs12203592 |
| 1000 genomes | rs12203592 |
| hgdp | rs12203592 |
| ensembl | rs12203592 |
| geneview | rs12203592 |
| scholar | rs12203592 |
| rs12203592 | |
| pharmgkb | rs12203592 |
| gwascentral | rs12203592 |
| openSNP | rs12203592 |
| 23andMe | rs12203592 |
| SNPshot | rs12203592 |
| SNPdbe | rs12203592 |
| MSV3d | rs12203592 |
| GWAS Ctlg | rs12203592 |
| GMAF | 0.05372 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
plos rs12203592 showed the largest allele frequency difference between the Irish individuals and those individuals of Northern, Central European and Eastern European descent
[PMID 18483556
] associated with hair color rs12896399 rs12203592
rs12203592 for freckling was previously associated with hair color, eye color, and tanning response to sunlight 10.1371/journal.pgen.1000993
10.1038/ncomms10815 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
| GWAS | |
|---|---|
| SNP | rs12203592 |
| PubMedID | [PMID 18483556]
|
| Condition | Black vs. red hair color |
| Gene | IRF4 |
| Risk Allele | T |
| pValue | 9.00E-028 |
| OR | 0.31 |
| 95% CI | 0.25-0.36) decrease in hair color scor |
| GWAS snp | |
|---|---|
| PMID | [PMID 28502801]
|
| Trait | Skin aging measurement |
| Title | Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging. |
| Risk Allele | |
| P-val | |
| Odds Ratio | |
[PMID 19396635] Relationship between interferon regulatory factor 4 genetic polymorphisms, measures of sun sensitivity and risk for non-Hodgkin lymphoma
[PMID 19897031] An Intronic Polymorphism of IRF4 Gene Influences Gene Transcription in vitro and Shows a Risk Association with Childhood Acute Lymphoblastic Leukemia in Males
[PMID 20602913] IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma
| GWAS snp | |
|---|---|
| PMID | [PMID 20585627]
|
| Trait | Eye color |
| Title | Web-based, participant-driven studies yield novel genetic associations for common traits |
| Risk Allele | T |
| P-val | 2E-15 |
| Odds Ratio | 0.42 [NR] unit decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 21685912]
|
| Trait | |
| Title | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. |
| Risk Allele | |
| P-val | 6E-15 |
| Odds Ratio | 1.4800 [1.34-1.63] |
[PMID 22512251] Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma
[PMID 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 20018015] Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.
[PMID 20463881] Digital quantification of human eye color highlights genetic association of three new loci.
[PMID 21270109] A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.
[PMID 21962134] Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.
[PMID 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
[PMID 23537197] Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population
[PMID 23548203] Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans
[PMID 23771755] Improved eye- and skin-color prediction based on 8 SNPs.
[PMID 24906573] Association of interferon regulatory factor 4 gene polymorphisms rs12203592 and rs872071 with skin cancer and haematological malignancies susceptibility: a meta-analysis of 19 case-control studies
| ClinVar | |
|---|---|
| Risk | Rs12203592(T;T) |
| Alt | Rs12203592(T;T) |
| Reference | Rs12203592(C;C) |
| Significance | Other |
| Disease | Skin/hair/eye pigmentation |
| Variation | info |
| Gene | IRF4 |
| CLNDBN | Skin/hair/eye pigmentation, variation in, 8 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.396321C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000148012.6, |
[PMID 26857527] Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways.
[PMID 27570521] Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis.
[PMID 28103633] IRF4 rs12203592 functional variant and melanoma survival.
[PMID 29054604] Susceptibility loci associated cutaneous squamous cell carcinoma invasiveness.
[PMID 30520188] Non-genetic and genetic predictors of a superficial first basal cell carcinoma.
[PMID 31958143] Association of IRF4 SNP rs12203592 with melanoma-specific survival.
