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rs121918519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918519(C;T)
Make rs121918519(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11448604
GenePRKCSH
is asnp
is mentioned by
dbSNPrs121918519
ebirs121918519
HLIrs121918519
Exacrs121918519
Varsomers121918519
Maprs121918519
PheGenIrs121918519
hapmaprs121918519
1000 genomesrs121918519
hgdprs121918519
ensemblrs121918519
gopubmedrs121918519
geneviewrs121918519
scholarrs121918519
googlers121918519
pharmgkbrs121918519
gwascentralrs121918519
openSNPrs121918519
23andMers121918519
23andMe allrs121918519
SNP Nexus

SNPshotrs121918519
SNPdbers121918519
MSV3drs121918519
GWAS Ctlgrs121918519
Max Magnitude0
OMIM177060
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918519(T;T)
Alt rs121918519(T;T)
Reference rs121918519(C;C)
Significance Pathogenic
Disease Congenital cystic disease of liver
Variation info
Gene PRKCSH
CLNDBN Congenital cystic disease of liver
Reversed 0
HGVS NC_000019.9:g.11559419C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014146.26,