Have questions? Visit https://www.reddit.com/r/SNPedia

rs987525

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome8
Position128933908
is asnp
is mentioned by
dbSNPrs987525
ebirs987525
HLIrs987525
Exacrs987525
Varsomers987525
Maprs987525
PheGenIrs987525
hapmaprs987525
1000 genomesrs987525
hgdprs987525
ensemblrs987525
gopubmedrs987525
geneviewrs987525
scholarrs987525
googlers987525
pharmgkbrs987525
gwascentralrs987525
openSNPrs987525
23andMers987525
23andMe allrs987525
SNP Nexus

SNPshotrs987525
SNPdbers987525
MSV3drs987525
GWAS Ctlgrs987525
GMAF0.2544
Max Magnitude2
? (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]

23andMe blog article

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 20436469OA-icon.png]
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

OMIM612858
Desc
Variant
Relatedalso


[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 20196142OA-icon.png] 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 21694738OA-icon.png] 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
rs987525
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.296875
summary



Cleft Lip and Cleft Palate

GWAS snp
PMID [PMID 22863734OA-icon.png]
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 23463464OA-icon.png] 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.