rs2235371
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2235371(C;T) |
| Make rs2235371(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 209790735 |
| Gene | IRF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2235371 |
| dbSNP (classic) | rs2235371 |
| ClinGen | rs2235371 |
| ebi | rs2235371 |
| HLI | rs2235371 |
| Exac | rs2235371 |
| Gnomad | rs2235371 |
| Varsome | rs2235371 |
| LitVar | rs2235371 |
| Map | rs2235371 |
| PheGenI | rs2235371 |
| Biobank | rs2235371 |
| 1000 genomes | rs2235371 |
| hgdp | rs2235371 |
| ensembl | rs2235371 |
| geneview | rs2235371 |
| scholar | rs2235371 |
| rs2235371 | |
| pharmgkb | rs2235371 |
| gwascentral | rs2235371 |
| openSNP | rs2235371 |
| 23andMe | rs2235371 |
| SNPshot | rs2235371 |
| SNPdbe | rs2235371 |
| MSV3d | rs2235371 |
| GWAS Ctlg | rs2235371 |
| Merged from | Rs17015215 |
| GMAF | 0.1377 |
| Max Magnitude | 0 |
| ? | (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
[PMID 19734457
] Association between IRF6 SNPs and oral clefts in West China
| ClinVar | |
|---|---|
| Risk | rs2235371(T;T) |
| Alt | rs2235371(T;T) |
| Reference | Rs2235371(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Popliteal pterygium syndrome Cleft Lip +/- Cleft Palate Van der Woude syndrome |
| Variation | info |
| Gene | IRF6 |
| CLNDBN | not specified Popliteal pterygium syndrome Cleft Lip +/- Cleft Palate, Autosomal Dominant Van der Woude syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.209964080C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000253203.1, RCV000273414.1, RCV000331862.1, RCV000356319.1, |
[PMID 17318851] Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.
[PMID 17438386] Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
[PMID 18278815] 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 18836445] Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
[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 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 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.
[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 23940636] TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China
[PMID 30419764] Association Studies Between Regulatory Regions of IRF6/ TP63 Genes and Nonsyndromic Oral Clefts.
[PMID 30462859] Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population.
[PMID 32617779] Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.
