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rs794727187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAA;GAAA) 0 common in clinvar
Make rs794727187(-;-)
Make rs794727187(-;AAGA)
Make rs794727187(AAGA;AAGA)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11449285
GenePRKCSH
is asnp
is mentioned by
dbSNPrs794727187
dbSNP (classic)rs794727187
ClinGenrs794727187
ebirs794727187
HLIrs794727187
Exacrs794727187
Gnomadrs794727187
Varsomers794727187
LitVarrs794727187
Maprs794727187
PheGenIrs794727187
Biobankrs794727187
1000 genomesrs794727187
hgdprs794727187
ensemblrs794727187
geneviewrs794727187
scholarrs794727187
googlers794727187
pharmgkbrs794727187
gwascentralrs794727187
openSNPrs794727187
23andMers794727187
SNPshotrs794727187
SNPdbers794727187
MSV3drs794727187
GWAS Ctlgrs794727187
Max Magnitude0
ClinVar
Risk rs794727187(-;-)
Alt rs794727187(-;-)
Reference Rs794727187(GAAA;GAAA)
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.11560100_11560103delAAGA
CLNSRC
CLNACC RCV000175169.1,