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rs794728683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728683(A;A)
Make rs794728683(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position55052398
GenePCSK9
is asnp
is mentioned by
dbSNPrs794728683
dbSNP (classic)rs794728683
ClinGenrs794728683
ebirs794728683
HLIrs794728683
Exacrs794728683
Gnomadrs794728683
Varsomers794728683
LitVarrs794728683
Maprs794728683
PheGenIrs794728683
Biobankrs794728683
1000 genomesrs794728683
hgdprs794728683
ensemblrs794728683
geneviewrs794728683
scholarrs794728683
googlers794728683
pharmgkbrs794728683
gwascentralrs794728683
openSNPrs794728683
23andMers794728683
SNPshotrs794728683
SNPdbers794728683
MSV3drs794728683
GWAS Ctlgrs794728683
Max Magnitude0
ClinVar
Risk rs794728683(A;A)
Alt rs794728683(A;A)
Reference Rs794728683(G;G)
Significance Pathogenic
Disease not provided Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN not provided Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55518071G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000182575.2, RCV000412537.1,