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rs778738291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778738291(A;A)
Make rs778738291(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position55044020
GenePCSK9
is asnp
is mentioned by
dbSNPrs778738291
dbSNP (classic)rs778738291
ClinGenrs778738291
ebirs778738291
HLIrs778738291
Exacrs778738291
Gnomadrs778738291
Varsomers778738291
LitVarrs778738291
Maprs778738291
PheGenIrs778738291
Biobankrs778738291
1000 genomesrs778738291
hgdprs778738291
ensemblrs778738291
geneviewrs778738291
scholarrs778738291
googlers778738291
pharmgkbrs778738291
gwascentralrs778738291
openSNPrs778738291
23andMers778738291
SNPshotrs778738291
SNPdbers778738291
MSV3drs778738291
GWAS Ctlgrs778738291
Max Magnitude0
ClinVar
Risk rs778738291(A;A)
Alt rs778738291(A;A)
Reference Rs778738291(G;G)
Significance Probable-Pathogenic
Disease Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55509693G>A
CLNSRC
CLNACC RCV000417258.1,