Rs10825269

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs10825269(C;T)
Make rs10825269(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position54195850
GenePCDH15
is asnp
is mentioned by
dbSNPrs10825269
Exacrs10825269
PheGenIrs10825269
nextbiors10825269
hapmaprs10825269
1000 genomesrs10825269
hgdprs10825269
ensemblrs10825269
gopubmedrs10825269
geneviewrs10825269
scholarrs10825269
googlers10825269
pharmgkbrs10825269
gwascentralrs10825269
openSNPrs10825269
23andMers10825269
23andMe allrs10825269
SNP Nexus

SNPshotrs10825269
SNPdbers10825269
MSV3drs10825269
GMAF0.208
? (C;C) (C;T) (T;T) 28
[PMID 19816713OA-icon.png] A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia


ClinVar
Risk rs10825269(T;T)
Alt rs10825269(T;T)
Reference rs10825269(C;C)
Significance Non-pathogenic
Disease AllHighlyPenetrant not provided
Variation info
Gene PCDH15
CLNDBN AllHighlyPenetrant not provided
Reversed 0
HGVS NC_000010.10:g.55955610C>T
CLNSRC
CLNACC RCV000039695.1, RCV000086940.1,



GET Evidence
PCDH15-G380S
aa_change Gly380Ser
aa_change_short G380S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.226562
summary



GWAS snp
PMID [PMID 24797007]
Trait Irritable bowel syndrome
Title Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.
Risk Allele T
P-val 5E-6
Odds Ratio 1.55 [1.28-1.87]