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rs764603059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764603059(G;T)
Make rs764603059(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position55039940
GenePCSK9
is asnp
is mentioned by
dbSNPrs764603059
dbSNP (classic)rs764603059
ClinGenrs764603059
ebirs764603059
HLIrs764603059
Exacrs764603059
Gnomadrs764603059
Varsomers764603059
LitVarrs764603059
Maprs764603059
PheGenIrs764603059
Biobankrs764603059
1000 genomesrs764603059
hgdprs764603059
ensemblrs764603059
geneviewrs764603059
scholarrs764603059
googlers764603059
pharmgkbrs764603059
gwascentralrs764603059
openSNPrs764603059
23andMers764603059
23andMe allrs764603059
SNPshotrs764603059
SNPdbers764603059
MSV3drs764603059
GWAS Ctlgrs764603059
Max Magnitude0
ClinVar
Risk rs764603059(T;T)
Alt rs764603059(T;T)
Reference Rs764603059(G;G)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55505613G>T
CLNSRC
CLNACC RCV000417231.1,