{{Rsnum
|rsid=987525
|Chromosome=8
|position=128933908
|Orientation=plus
|GMAF=0.2544
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 2.7 | 38.9 | 58.4
| HCB | 0.0 | 8.2 | 91.8
| JPT | 0.9 | 6.3 | 92.8
| YRI | 46.9 | 38.8 | 14.3
| ASW | 30.4 | 51.8 | 17.9
| CHB | 0.0 | 8.2 | 91.8
| CHD | 0.0 | 15.2 | 84.8
| GIH | 5.1 | 36.4 | 58.6
| LWK | 36.4 | 46.4 | 17.3
| MEX | 5.2 | 17.2 | 77.6
| MKK | 35.3 | 41.0 | 23.7
| TSI | 4.0 | 34.7 | 61.4
| HapMapRevision=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 [http://www.snpedia.com/index.php/Glossary population attributable fraction] for this marker is 0.41, suggesting that this study has identified a major genetic cause for NSCL/P.{{PMID|19270707}}

[http://blog.23andme.com/2009/03/09/snpwatch-second-variant-linked-to-cleft-lip-and-palate/ 23andMe blog article]

Associated with European Facial [[Appearance]] {{doi|10.1371/journal.pgen.1002932}}
*[[rs7590268]]
*[[rs16903544]]
*[[rs987525]]
*[[rs9574565]]
*[[rs227731]]
*[[rs642961]] 
*[[rs1258763]]

{{PMID Auto
|PMID=19656524
|Title=A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24
}}

{{PharmGKB
|RSID=rs987525
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19270707; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. (Initial Sample Size: 224 cases, 383 controls; Replication Sample Size: 246 cases, 954 controls); (Region: 8q24.21; Reported Gene(s): PVT1, GSDMC; Risk Allele: rs987525-A); (p-value= 3E-24).This variant is associated with Nonsyndromic cleft lip with or without cleft palate.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739928
}}

{{PMID Auto GWAS
|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
|RiskAllele=A
|Pval=4E-16
|OR=1.78
|ORtxt=[1.55-2.05]
|OA=1
}}
{{PMID Auto
|PMID=20860768
|Title=Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population
}}

{{omim
|id=612858
|rsnum=987525
}}

{{PMID Auto
|PMID=22511506
|Title=Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil
}}

{{PMID Auto
|PMID=22044123
|Title=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|OA=1
}} 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|OA=1
}} Genetic determination of human facial morphology: links between cleft-lips and normal variation.

{{PMID|22496123}} Defining predictors of cleft lip and palate risk.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs987525
|overall_frequency_n=38
|overall_frequency_d=128
|overall_frequency=0.296875
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Cleft Lip and Cleft Palate]]

{{PMID Auto GWAS
  |PMID=22863734
  |Trait=Orofacial clefts
  |Title=Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
  |RiskAllele=A
  |Pval=1E-26
  |OR=NR
  |ORtxt=NR
  |OA=1
}}

{{PMID Auto
|PMID=23166094
|Title=Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies
}}

{{PMID Auto
|PMID=23463464
|Title=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).
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}