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rs137852824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852824(C;T)
Make rs137852824(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position96410949
GenePCSK1
is asnp
is mentioned by
dbSNPrs137852824
ebirs137852824
HLIrs137852824
Exacrs137852824
Varsomers137852824
Maprs137852824
PheGenIrs137852824
hapmaprs137852824
1000 genomesrs137852824
hgdprs137852824
ensemblrs137852824
gopubmedrs137852824
geneviewrs137852824
scholarrs137852824
googlers137852824
pharmgkbrs137852824
gwascentralrs137852824
openSNPrs137852824
23andMers137852824
23andMe allrs137852824
SNP Nexus

SNPshotrs137852824
SNPdbers137852824
MSV3drs137852824
GWAS Ctlgrs137852824
Max Magnitude0
OMIM162150
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852824(T;T)
Alt rs137852824(T;T)
Reference rs137852824(C;C)
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.95746653G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015085.25,