rs987525
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | 6x increased risk for cleft lip |
| (A;C) | 1 | 2.5x increased risk for cleft lip |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 128933908 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs987525 |
| dbSNP (classic) | rs987525 |
| ClinGen | rs987525 |
| ebi | rs987525 |
| HLI | rs987525 |
| Exac | rs987525 |
| Gnomad | rs987525 |
| Varsome | rs987525 |
| LitVar | rs987525 |
| Map | rs987525 |
| PheGenI | rs987525 |
| Biobank | rs987525 |
| 1000 genomes | rs987525 |
| hgdp | rs987525 |
| ensembl | rs987525 |
| geneview | rs987525 |
| scholar | rs987525 |
| rs987525 | |
| pharmgkb | rs987525 |
| gwascentral | rs987525 |
| openSNP | rs987525 |
| 23andMe | rs987525 |
| SNPshot | rs987525 |
| SNPdbe | rs987525 |
| MSV3d | rs987525 |
| GWAS Ctlg | rs987525 |
| GMAF | 0.2544 |
| Max Magnitude | 2 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
A genome-wide association study involving 224 cases and 383 controls of Central European origin found that significant association between rs987525 and risk for nonsyndromic cleft lip with or without cleft palate (NSCL/P). The odds ratio for rs987525(A;G) individuals was 2.57 (CI: 2.02-3.26), and for rs987525(A;A), 6.05 (CI: 3.88-9.43). The calculated population attributable fraction for this marker is 0.41, suggesting that this study has identified a major genetic cause for NSCL/P.[PMID 19270707]
Associated with European Facial Appearance 10.1371/journal.pgen.1002932
[PMID 19656524] A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24
| GWAS snp | |
|---|---|
| PMID | [PMID 20436469 ]
|
| Trait | Cleft lip |
| Title | A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 |
| Risk Allele | A |
| P-val | 4E-16 |
| Odds Ratio | 1.78 [1.55-2.05] |
[PMID 20860768] Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population
[PMID 22511506] Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil
[PMID 22044123] Case-control and family-based association studies of novel susceptibility locus 8q24 in nonsyndromic cleft lip with or without cleft palate in a Southern Han Chinese population located in Guangdong Province
[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 21694738] Genetic determination of human facial morphology: links between cleft-lips and normal variation.
[PMID 22496123] Defining predictors of cleft lip and palate risk.
| GWAS snp | |
|---|---|
| PMID | [PMID 22863734]
|
| Trait | Orofacial clefts |
| Title | Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. |
| Risk Allele | A |
| P-val | 1E-26 |
| Odds Ratio | NR NR |
[PMID 23166094] Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies
[PMID 23463464] Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
[PMID 26198054] Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry
[PMID 26648166] Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population.
[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 30579133] Polymorphisms associated with oral clefts as potential susceptibility markers for oral and breast cancer.
