Have questions? Visit https://www.reddit.com/r/SNPedia

rs141502002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141502002(C;T)
Make rs141502002(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position55058549
GenePCSK9
is asnp
is mentioned by
dbSNPrs141502002
dbSNP (classic)rs141502002
ClinGenrs141502002
ebirs141502002
HLIrs141502002
Exacrs141502002
Gnomadrs141502002
Varsomers141502002
LitVarrs141502002
Maprs141502002
PheGenIrs141502002
Biobankrs141502002
1000 genomesrs141502002
hgdprs141502002
ensemblrs141502002
geneviewrs141502002
scholarrs141502002
googlers141502002
pharmgkbrs141502002
gwascentralrs141502002
openSNPrs141502002
23andMers141502002
SNPshotrs141502002
SNPdbers141502002
MSV3drs141502002
GWAS Ctlgrs141502002
Max Magnitude0
ClinVar
Risk rs141502002(T;T)
Alt rs141502002(T;T)
Reference Rs141502002(C;C)
Significance Probable-Pathogenic
Disease not specified Hypercholesterolemia Familial hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN not specified Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia
Reversed 0
HGVS NC_000001.10:g.55524222C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000182576.2, RCV000228895.1, RCV000408878.1,