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rs28999109

From SNPedia

Orientationminus
Stabilizedminus
Make rs28999109(C;C)
Make rs28999109(C;T)
Make rs28999109(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position156971889
GenePDGFC
is asnp
is mentioned by
dbSNPrs28999109
dbSNP (classic)rs28999109
ClinGenrs28999109
ebirs28999109
HLIrs28999109
Exacrs28999109
Gnomadrs28999109
Varsomers28999109
LitVarrs28999109
Maprs28999109
PheGenIrs28999109
Biobankrs28999109
1000 genomesrs28999109
hgdprs28999109
ensemblrs28999109
geneviewrs28999109
scholarrs28999109
googlers28999109
pharmgkbrs28999109
gwascentralrs28999109
openSNPrs28999109
23andMers28999109
SNPshotrs28999109
SNPdbers28999109
MSV3drs28999109
GWAS Ctlgrs28999109
GMAF0.03903
Max Magnitude0

rs28999109 is a SNP in the platelet derived growth factor C PDGFC gene.

A study of Chinese families identified this SNP has being significantly (p = 0.01) associated with cleft palate; similar association was also seen in families from the United States, Spain, India, Turkey, China, and Colombia, whereas no association was seen in families from the Philippines, and Guatemala (or case-controls from Brazil). This SNP may decrease PDGFC promoter activity.[PMID 19092777OA-icon.png] [PMID 23029525OA-icon.png] Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population.