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rs886039839

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039839(A;A)
Make rs886039839(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position55040022
GenePCSK9
is asnp
is mentioned by
dbSNPrs886039839
dbSNP (classic)rs886039839
ClinGenrs886039839
ebirs886039839
HLIrs886039839
Exacrs886039839
Gnomadrs886039839
Varsomers886039839
LitVarrs886039839
Maprs886039839
PheGenIrs886039839
Biobankrs886039839
1000 genomesrs886039839
hgdprs886039839
ensemblrs886039839
geneviewrs886039839
scholarrs886039839
googlers886039839
pharmgkbrs886039839
gwascentralrs886039839
openSNPrs886039839
23andMers886039839
SNPshotrs886039839
SNPdbers886039839
MSV3drs886039839
GWAS Ctlgrs886039839
Max Magnitude0
ClinVar
Risk rs886039839(A;A)
Alt rs886039839(A;A)
Reference Rs886039839(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000001.10:g.55505695C>A
CLNSRC Instituto Nacional de Saúde Doutor Ricardo Jorge
CLNACC RCV000256310.1,