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rs564427867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs564427867(A;A)
Make rs564427867(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position55039931
GenePCSK9
is asnp
is mentioned by
dbSNPrs564427867
dbSNP (classic)rs564427867
ClinGenrs564427867
ebirs564427867
HLIrs564427867
Exacrs564427867
Gnomadrs564427867
Varsomers564427867
LitVarrs564427867
Maprs564427867
PheGenIrs564427867
Biobankrs564427867
1000 genomesrs564427867
hgdprs564427867
ensemblrs564427867
geneviewrs564427867
scholarrs564427867
googlers564427867
pharmgkbrs564427867
gwascentralrs564427867
openSNPrs564427867
23andMers564427867
SNPshotrs564427867
SNPdbers564427867
MSV3drs564427867
GWAS Ctlgrs564427867
Max Magnitude0
ClinVar
Risk rs564427867(A;A)
Alt rs564427867(A;A)
Reference Rs564427867(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia Familial hypobetalipoproteinemia
Variation info
Gene PCSK9
CLNDBN Familial hypercholesterolemia Familial hypobetalipoproteinemia
Reversed 0
HGVS NC_000001.10:g.55505604G>A
CLNSRC Illumina
CLNACC RCV000331053.1, RCV000370400.1,