Rs10825269

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Orientationplus
is asnp
is mentioned by
dbSNPrs10825269
PheGenIrs10825269
nextbiors10825269
hapmaprs10825269
1000 genomesrs10825269
hgdprs10825269
ensemblrs10825269
gopubmedrs10825269
geneviewrs10825269
scholarrs10825269
googlers10825269
pharmgkbrs10825269
gwascentralrs10825269
openSNPrs10825269
23andMers10825269
23andMe allrs10825269
SNP Nexus

SNPshotrs10825269
SNPdbers10825269
MSV3drs10825269
GenePCDH15
Chromosome10
Orientationplus
GMAF0.208
Position54195850
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs10825269(C;T)
Make rs10825269(T;T)
? (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 2
Disease AllHighlyPenetrant, not provided
ClinVar info
Gene PCDH15
CLNDBN AllHighlyPenetrant, not provided
Reversed 0
CLNHGVS 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