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rs4112788

From SNPedia

Orientationminus
Stabilizedminus
Make rs4112788(C;C)
Make rs4112788(C;T)
Make rs4112788(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position152578800
GeneLCE3D
is asnp
is mentioned by
dbSNPrs4112788
ebirs4112788
HLIrs4112788
Exacrs4112788
Varsomers4112788
Maprs4112788
PheGenIrs4112788
hapmaprs4112788
1000 genomesrs4112788
hgdprs4112788
ensemblrs4112788
gopubmedrs4112788
geneviewrs4112788
scholarrs4112788
googlers4112788
pharmgkbrs4112788
gwascentralrs4112788
openSNPrs4112788
23andMers4112788
23andMe allrs4112788
SNP Nexus

SNPshotrs4112788
SNPdbers4112788
MSV3drs4112788
GWAS Ctlgrs4112788
GMAF0.332
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs4112788 tags the LCE3C_LCE3B deletion that has been associated with risk for psoriasis in a study of 2,800+ samples of European ancestry.

23andMe blog psoriasis Europeans

  • rs4112788(G) 1.41x risk
OMIM603935
DescPSORIASIS SUSCEPTIBILITY 4; PSORS4
Variant
Relatedalso
[PMID 20213803] Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis


[PMID 20331852OA-icon.png] Mutation analysis of the LCE3B/LCE3C genes in Psoriasis

[PMID 20643763OA-icon.png] Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis

GWAS snp
PMID [PMID 20953190OA-icon.png]
Trait
Title A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
Risk Allele
P-val 3E-10
Odds Ratio 1.2900 [1.19-1.40]


[PMID 21400479] Deletion of the LCE3C and LCE3Bgenes is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysis


[PMID 21628307] Deletion of LCE3C_LCE3B is associated with rheumatoid arthritis and systemic lupus erythematosus in the Chinese Han population

[PMID 19169254OA-icon.png] Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

[PMID 19439430OA-icon.png] Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients.

[PMID 19638187OA-icon.png] Genetic susceptibility to psoriasis: an emerging picture.

[PMID 21509048] Deletion of the late cornified envelope genes LCE3C and LCE3B is associated with psoriasis in a Chinese population.


GET Evidence
rs4112788
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.625
summary



[PMID 23594316OA-icon.png] Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders


[PMID 24566688] Deletion of late cornified envelope genes, LCE3C_LCE3B-del, is not associated with psoriatic arthritis in Tunisian patients