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rs7590268

From SNPedia

Orientationplus
Stabilizedplus
Make rs7590268(G;G)
Make rs7590268(G;T)
Make rs7590268(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43312986
GeneTHADA
is asnp
is mentioned by
dbSNPrs7590268
ClinGenrs7590268
ebirs7590268
HLIrs7590268
Exacrs7590268
Varsomers7590268
Maprs7590268
PheGenIrs7590268
hapmaprs7590268
1000 genomesrs7590268
hgdprs7590268
ensemblrs7590268
gopubmedrs7590268
geneviewrs7590268
scholarrs7590268
googlers7590268
pharmgkbrs7590268
gwascentralrs7590268
openSNPrs7590268
23andMers7590268
23andMe allrs7590268
SNP Nexus

SNPshotrs7590268
SNPdbers7590268
MSV3drs7590268
GWAS Ctlgrs7590268
GMAF0.1667
Max Magnitude
? (G;G) (G;T) (T;T) 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 G
P-val 9E-8
Odds Ratio 1.42 [1.26-1.59]

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


GET Evidence
rs7590268
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.234375
summary



[PMID 23536526] Association and cumulative effects of GWAS-identified genetic variants for nonsyndromic orofacial clefts in a Chinese population

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 G
P-val 1E-8
Odds Ratio 1.42 [1.225-1.636]


[PMID 25786657OA-icon.png] Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans