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rs137852822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852822(G;T)
Make rs137852822(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position96412452
GenePCSK1
is asnp
is mentioned by
dbSNPrs137852822
ebirs137852822
HLIrs137852822
Exacrs137852822
Varsomers137852822
Maprs137852822
PheGenIrs137852822
hapmaprs137852822
1000 genomesrs137852822
hgdprs137852822
ensemblrs137852822
gopubmedrs137852822
geneviewrs137852822
scholarrs137852822
googlers137852822
pharmgkbrs137852822
gwascentralrs137852822
openSNPrs137852822
23andMers137852822
23andMe allrs137852822
SNP Nexus

SNPshotrs137852822
SNPdbers137852822
MSV3drs137852822
GWAS Ctlgrs137852822
Max Magnitude0
OMIM162150
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852822(T;T)
Alt rs137852822(T;T)
Reference rs137852822(G;G)
Significance Pathogenic
Disease Proprotein convertase 1/3 deficiency
Variation info
Gene PCSK1 LOC101929710
CLNDBN Proprotein convertase 1/3 deficiency
Reversed 1
HGVS NC_000005.9:g.95748156C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015083.25,