rs2013162
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2013162(A;A) |
| Make rs2013162(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 209795339 |
| Gene | IRF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2013162 |
| dbSNP (classic) | rs2013162 |
| ClinGen | rs2013162 |
| ebi | rs2013162 |
| HLI | rs2013162 |
| Exac | rs2013162 |
| Gnomad | rs2013162 |
| Varsome | rs2013162 |
| LitVar | rs2013162 |
| Map | rs2013162 |
| PheGenI | rs2013162 |
| Biobank | rs2013162 |
| 1000 genomes | rs2013162 |
| hgdp | rs2013162 |
| ensembl | rs2013162 |
| geneview | rs2013162 |
| scholar | rs2013162 |
| rs2013162 | |
| pharmgkb | rs2013162 |
| gwascentral | rs2013162 |
| openSNP | rs2013162 |
| 23andMe | rs2013162 |
| SNPshot | rs2013162 |
| SNPdbe | rs2013162 |
| MSV3d | rs2013162 |
| GWAS Ctlg | rs2013162 |
| GMAF | 0.4031 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19734457
] Association between IRF6 SNPs and oral clefts in West China
[PMID 15558496] Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.
[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 18978678] Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
[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 20403199] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
[PMID 23940636] TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China
| ClinVar | |
|---|---|
| Risk | rs2013162(A;A) rs2013162(T;T) |
| Alt | rs2013162(A;A) rs2013162(T;T) |
| Reference | Rs2013162(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.209968684C>A |
| CLNSRC | |
| CLNACC | RCV000251393.1, RCV000288076.1, RCV000345570.1, RCV000402163.1, |
