SNP rs642961

Basic Information
Name rs642961
Chromosome 1
Position 209815925
Weight of evidence 52
Additional Information

Links to SNPedia

Title Summary
rs642961 A/A 2.40x increased risk of cleft lip
rs642961 G/G Normal risk of cleft lip
rs642961 A/G 1.68x increased risk of cleft lip
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on Mendeley

First Author Title Pub. Year # of Readers DOI
Fedik Rahimov Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 2008 39 10.1038/ng.242Oa logo
Fedik Rahimov Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 2008 1 -
Shouneng Peng Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration 2013 15 10.1371/journal.pcbi.1003375Oa logo
Alys M Murdoch Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia. 2009 2 Oa logo
M Pegelow Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. 2013 1 10.1597/11-220
Qian Zhou Association between interferon regulatory factor 6 gene polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population. 2013 3 10.1597/12-234
Walid D Fakhouri MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63. 2012 1 10.1002/dvdy.22786
Yongchu Pan IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. 2010 0 10.1002/ajmg.a.33624
M Pegelow Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. 2014 6 10.1597/11-220
Jinna Shi 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. 2011 2 -
Fedik Rahimov Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 2008 30 -
BrianC Schutte Regulatory Mutations Leading to Cleft Lip and Palate 2012 5 10.1007/978-1-4614-1683-8_6
Stefanie Birnbaum IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. 2009 9 -
Fedik Rahimov associated with cleft lip 2009 4 10.1038/ng.242.Disruption
Susan H Blanton Ethnic Heterogeneity of IRF6 AP-2a Binding Site Promoter SNP Association With Nonsyndromic Cleft Lip and Palate. 2010 3 -
Fedik Rahimov Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 2008 1 -
S N P Currently Single Nucleotide Polymorphisms ( SNPs ) 2000 8 10.1016/j.bbrc.2011.06.006
Adrianna Mostowska Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. 2010 4 -
Walid D Fakhouri MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63. 2012 2 10.1002/dvdy.22786Oa logo
Meilin Wang Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies. 2012 2 10.1002/ajmg.a.35634Oa logo
S N Peng Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration 2013 1 10.1371/journal.pcbi.1003375Oa logo
Walid D Fakhouri MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63. 2012 3 10.1002/dvdy.22786
Alys M Murdoch Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia. 2009 3 10.2334/josnusd.51.521Oa logo

Evidence compiled by the Personal Genome Project

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Publications listed by Genome.gov

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