rs642961
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 209815925 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs642961 |
| dbSNP (classic) | rs642961 |
| ClinGen | rs642961 |
| ebi | rs642961 |
| HLI | rs642961 |
| Exac | rs642961 |
| Gnomad | rs642961 |
| Varsome | rs642961 |
| LitVar | rs642961 |
| Map | rs642961 |
| PheGenI | rs642961 |
| Biobank | rs642961 |
| 1000 genomes | rs642961 |
| hgdp | rs642961 |
| ensembl | rs642961 |
| geneview | rs642961 |
| scholar | rs642961 |
| rs642961 | |
| pharmgkb | rs642961 |
| gwascentral | rs642961 |
| openSNP | rs642961 |
| 23andMe | rs642961 |
| SNPshot | rs642961 |
| SNPdbe | rs642961 |
| MSV3d | rs642961 |
| GWAS Ctlg | rs642961 |
| GMAF | 0.1736 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18836445
] 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
[PMID 19521098] 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 19881024] 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 20196142] 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.
[PMID 22887868] IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
[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 24339768] 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]
[PMID 28422192] Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population.
[PMID 30419764] Association Studies Between Regulatory Regions of IRF6/ TP63 Genes and Nonsyndromic Oral Clefts.
[PMID 30579133] Polymorphisms associated with oral clefts as potential susceptibility markers for oral and breast cancer.
[PMID 32617779] Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.
