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rs11557488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11557488(A;A)
Make rs11557488(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11447460
GenePRKCSH
is asnp
is mentioned by
dbSNPrs11557488
ebirs11557488
HLIrs11557488
Exacrs11557488
Varsomers11557488
Maprs11557488
PheGenIrs11557488
hapmaprs11557488
1000 genomesrs11557488
hgdprs11557488
ensemblrs11557488
gopubmedrs11557488
geneviewrs11557488
scholarrs11557488
googlers11557488
pharmgkbrs11557488
gwascentralrs11557488
openSNPrs11557488
23andMers11557488
23andMe allrs11557488
SNP Nexus

SNPshotrs11557488
SNPdbers11557488
MSV3drs11557488
GWAS Ctlgrs11557488
GMAF0.1253
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PRKCSH
allele A
frequency
sift TOLERATED
HuRef 1103691091129
Disease Association Defects in PRKCSH are a cause of polycystic liver disease (PCLD) (MIM:174050). PCLD is an autosomal dominant disorder and is characterized by the presence of multiple liver cysts of biliary epithelial origin. PCLD is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD) (MIM:173900), which in a considerable but uncertain proportion of cases is associated with hepatic cysts.



GET Evidence
PRKCSH-A291T
aa_change Ala291Thr
aa_change_short A291T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.158888
summary



ClinVar
Risk rs11557488(A;A)
Alt rs11557488(A;A)
Reference rs11557488(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PRKCSH
CLNDBN not specified
Reversed 0
HGVS NC_000019.9:g.11558275G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080027.4,