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rs137852912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs137852912(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position55057454
GenePCSK9
is asnp
is mentioned by
dbSNPrs137852912
ebirs137852912
HLIrs137852912
Exacrs137852912
Varsomers137852912
Maprs137852912
PheGenIrs137852912
hapmaprs137852912
1000 genomesrs137852912
hgdprs137852912
ensemblrs137852912
gopubmedrs137852912
geneviewrs137852912
scholarrs137852912
googlers137852912
pharmgkbrs137852912
gwascentralrs137852912
openSNPrs137852912
23andMers137852912
23andMe allrs137852912
SNP Nexus

SNPshotrs137852912
SNPdbers137852912
MSV3drs137852912
GWAS Ctlgrs137852912
Max Magnitude4

aka c.1120G>T, p.Asp374Tyr or D374Y

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

OMIM607786
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852912(A,T;A,T)
Alt rs137852912(A,T;A,T)
Reference rs137852912(G;G)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55523127G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003009.3,