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rs1057516136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516136(A;G)
Make rs1057516136(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position55059519
GenePCSK9
is asnp
is mentioned by
dbSNPrs1057516136
dbSNP (classic)rs1057516136
ClinGenrs1057516136
ebirs1057516136
HLIrs1057516136
Exacrs1057516136
Gnomadrs1057516136
Varsomers1057516136
LitVarrs1057516136
Maprs1057516136
PheGenIrs1057516136
Biobankrs1057516136
1000 genomesrs1057516136
hgdprs1057516136
ensemblrs1057516136
geneviewrs1057516136
scholarrs1057516136
googlers1057516136
pharmgkbrs1057516136
gwascentralrs1057516136
openSNPrs1057516136
23andMers1057516136
23andMe allrs1057516136
SNPshotrs1057516136
SNPdbers1057516136
MSV3drs1057516136
GWAS Ctlgrs1057516136
Max Magnitude0
ClinVar
Risk rs1057516136(G;G)
Alt rs1057516136(G;G)
Reference Rs1057516136(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000001.10:g.55525192A>G
CLNSRC
CLNACC RCV000408784.1,