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rs143275858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143275858(A;A)
Make rs143275858(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position55058106
GenePCSK9
is asnp
is mentioned by
dbSNPrs143275858
dbSNP (classic)rs143275858
ClinGenrs143275858
ebirs143275858
HLIrs143275858
Exacrs143275858
Gnomadrs143275858
Varsomers143275858
LitVarrs143275858
Maprs143275858
PheGenIrs143275858
Biobankrs143275858
1000 genomesrs143275858
hgdprs143275858
ensemblrs143275858
geneviewrs143275858
scholarrs143275858
googlers143275858
pharmgkbrs143275858
gwascentralrs143275858
openSNPrs143275858
23andMers143275858
SNPshotrs143275858
SNPdbers143275858
MSV3drs143275858
GWAS Ctlgrs143275858
Max Magnitude0
ClinVar
Risk rs143275858(A;A)
Alt rs143275858(A;A)
Reference Rs143275858(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Familial hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55523779C>A
CLNSRC The University of Western Ontario
CLNACC RCV000408779.1, RCV000417285.1,