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rs642961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 2.40x increased risk of cleft lip
(A;G) 1.5 1.68x increased risk of cleft lip
(G;G) 1 Normal risk of cleft lip
ReferenceGRCh38 38.1/141
Chromosome1
Position209815925
is asnp
is mentioned by
dbSNPrs642961
ebirs642961
HLIrs642961
Exacrs642961
Varsomers642961
Maprs642961
PheGenIrs642961
hapmaprs642961
1000 genomesrs642961
hgdprs642961
ensemblrs642961
gopubmedrs642961
geneviewrs642961
scholarrs642961
googlers642961
pharmgkbrs642961
gwascentralrs642961
openSNPrs642961
23andMers642961
23andMe allrs642961
SNP Nexus

SNPshotrs642961
SNPdbers642961
MSV3drs642961
GWAS Ctlgrs642961
GMAF0.1736
Max Magnitude2
? (A;A) (A;G) (G;G) 28
[PMID 18836445OA-icon.png] risk of cleft lip

23andMe considers rs861020 a proxy

GWAS snp
PMID [PMID 19270707]
Trait Nonsyndromic cleft lip with or without cleft palate
Title Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Risk Allele A
P-val 0.000002
Odds Ratio NR NR

Associated with European Facial Appearance 10.1371/journal.pgen.1002932

OMIM608864
DescOROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
Variant
Relatedalso
OMIM607199
DescINTERFERON REGULATORY FACTOR 6; IRF6
Variant
Relatedalso
[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 19881024OA-icon.png] Current concepts in genetics of nonsyndromic clefts.

[PMID 20032603] Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia.

[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 20544801] Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.

[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 22113860] MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63.


GET Evidence
rs642961
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.867188
summary



[PMID 22887868] IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

Cleft Lip and Cleft Palate


[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 24339768OA-icon.png] Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration


[PMID 25896061] IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate


[PMID 26198054] Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry


[PMID 26454948] [Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate]