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rs137852821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852821(A;A)
Make rs137852821(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position96399020
GenePCSK1
is asnp
is mentioned by
dbSNPrs137852821
ebirs137852821
HLIrs137852821
Exacrs137852821
Varsomers137852821
Maprs137852821
PheGenIrs137852821
hapmaprs137852821
1000 genomesrs137852821
hgdprs137852821
ensemblrs137852821
gopubmedrs137852821
geneviewrs137852821
scholarrs137852821
googlers137852821
pharmgkbrs137852821
gwascentralrs137852821
openSNPrs137852821
23andMers137852821
23andMe allrs137852821
SNP Nexus

SNPshotrs137852821
SNPdbers137852821
MSV3drs137852821
GWAS Ctlgrs137852821
Max Magnitude0
OMIM162150
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852821(A;A)
Alt rs137852821(A;A)
Reference rs137852821(G;G)
Significance Pathogenic
Disease Proprotein convertase 1/3 deficiency
Variation info
Gene LOC101929710 PCSK1
CLNDBN Proprotein convertase 1/3 deficiency
Reversed 1
HGVS NC_000005.9:g.95734724C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015081.26,