Have questions? Visit https://www.reddit.com/r/SNPedia

rs2235371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2235371(C;T)
Make rs2235371(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209790735
GeneIRF6
is asnp
is mentioned by
dbSNPrs2235371
ebirs2235371
HLIrs2235371
Exacrs2235371
Varsomers2235371
Maprs2235371
PheGenIrs2235371
hapmaprs2235371
1000 genomesrs2235371
hgdprs2235371
ensemblrs2235371
gopubmedrs2235371
geneviewrs2235371
scholarrs2235371
googlers2235371
pharmgkbrs2235371
gwascentralrs2235371
openSNPrs2235371
23andMers2235371
23andMe allrs2235371
SNP Nexus

SNPshotrs2235371
SNPdbers2235371
MSV3drs2235371
GWAS Ctlgrs2235371
Merged fromRs17015215
GMAF0.1377
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 19536891] The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population

OMIM608864
DescOROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
Variant
Relatedalso
OMIM607199
DescINTERFERON REGULATORY FACTOR 6; IRF6
Variant
Relatedalso
[PMID 19734457OA-icon.png] Association between IRF6 SNPs and oral clefts in West China


ClinVar
Risk rs2235371(T;T)
Alt rs2235371(T;T)
Reference rs2235371(C;C)
Significance Untested
Disease Van der Woude syndrome Popliteal pterygium syndrome
Variation info
Gene IRF6
CLNDBN Van der Woude syndrome Popliteal pterygium syndrome
Reversed 0
HGVS NC_000001.10:g.209964080C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000023750.1, SCV000023750.1, SCV000044918.1, SCV000044918.1,



[PMID 17318851OA-icon.png] Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.

[PMID 17438386OA-icon.png] Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

[PMID 18278815OA-icon.png] Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.

[PMID 18836445OA-icon.png] Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

[PMID 19521098OA-icon.png] Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

[PMID 19780991] Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.

[PMID 20121942] IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.

[PMID 20196142OA-icon.png] Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.

[PMID 20799332] IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.

[PMID 21683068] Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population.

[PMID 21792966] Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population.

[PMID 21834040] Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population.


GET Evidence
IRF6-V274I
aa_change Val274Ile
aa_change_short V274I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0111545
summary



[PMID 23394314] Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate


[PMID 23166094] Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies


[PMID 23940636OA-icon.png] TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China