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rs121918520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918520(C;G)
Make rs121918520(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11448917
GenePRKCSH
is asnp
is mentioned by
dbSNPrs121918520
ebirs121918520
HLIrs121918520
Exacrs121918520
Varsomers121918520
Maprs121918520
PheGenIrs121918520
hapmaprs121918520
1000 genomesrs121918520
hgdprs121918520
ensemblrs121918520
gopubmedrs121918520
geneviewrs121918520
scholarrs121918520
googlers121918520
pharmgkbrs121918520
gwascentralrs121918520
openSNPrs121918520
23andMers121918520
23andMe allrs121918520
SNP Nexus

SNPshotrs121918520
SNPdbers121918520
MSV3drs121918520
GWAS Ctlgrs121918520
Max Magnitude0
OMIM177060
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918520(G,T;G,T)
Alt rs121918520(G,T;G,T)
Reference rs121918520(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.11559732C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014147.26,