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rs227731

From SNPedia

Orientationminus
Stabilizedminus
Make rs227731(A;A)
Make rs227731(A;C)
Make rs227731(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position56695877
is asnp
is mentioned by
dbSNPrs227731
ebirs227731
HLIrs227731
Exacrs227731
Varsomers227731
Maprs227731
PheGenIrs227731
hapmaprs227731
1000 genomesrs227731
hgdprs227731
ensemblrs227731
gopubmedrs227731
geneviewrs227731
scholarrs227731
googlers227731
pharmgkbrs227731
gwascentralrs227731
openSNPrs227731
23andMers227731
23andMe allrs227731
SNP Nexus

SNPshotrs227731
SNPdbers227731
MSV3drs227731
GWAS Ctlgrs227731
GMAF0.4876
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 20023658]
Trait Nonsyndromic cleft lip with or without cleft palate
Title Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
Risk Allele C
P-val 1E-8
Odds Ratio 1.38 [1.21-1.56]


[PMID 22021054] Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the Polish population.

Associated with European Facial Appearance 10.1371/journal.pgen.1002932


GET Evidence
rs227731
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.625
summary



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 C
P-val 2E-8
Odds Ratio 1.23 [1.078-1.400]