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rs137852823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAG;CAG) 0 common in clinvar
Make rs137852823(-;-)
Make rs137852823(-;GCA)
Make rs137852823(GCA;GCA)
ReferenceGRCh38 38.1/141
Chromosome5
Position96416103
GenePCSK1
is asnp
is mentioned by
dbSNPrs137852823
ebirs137852823
HLIrs137852823
Exacrs137852823
Varsomers137852823
Maprs137852823
PheGenIrs137852823
hapmaprs137852823
1000 genomesrs137852823
hgdprs137852823
ensemblrs137852823
gopubmedrs137852823
geneviewrs137852823
scholarrs137852823
googlers137852823
pharmgkbrs137852823
gwascentralrs137852823
openSNPrs137852823
23andMers137852823
23andMe allrs137852823
SNP Nexus

SNPshotrs137852823
SNPdbers137852823
MSV3drs137852823
GWAS Ctlgrs137852823
Max Magnitude0
OMIM162150
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852823(;)
Alt rs137852823(;)
Reference rs137852823(CAG;CAG)
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.95751807_95751809delTGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015084.23,