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.