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rs1057519691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519691(G;G)
Make rs1057519691(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position55043958
GenePCSK9
is asnp
is mentioned by
dbSNPrs1057519691
dbSNP (old)rs1057519691
ClinGenrs1057519691
ebirs1057519691
HLIrs1057519691
Exacrs1057519691
Gnomadrs1057519691
Varsomers1057519691
LitVarrs1057519691
Maprs1057519691
PheGenIrs1057519691
Biobankrs1057519691
1000 genomesrs1057519691
hgdprs1057519691
ensemblrs1057519691
gopubmedrs1057519691
geneviewrs1057519691
scholarrs1057519691
googlers1057519691
pharmgkbrs1057519691
gwascentralrs1057519691
openSNPrs1057519691
23andMers1057519691
23andMe allrs1057519691
SNPshotrs1057519691
SNPdbers1057519691
MSV3drs1057519691
GWAS Ctlgrs1057519691
Max Magnitude0
ClinVar
Risk rs1057519691(G;G)
Alt rs1057519691(G;G)
Reference Rs1057519691(T;T)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene PCSK9
CLNDBN Hypercholesterolemia, autosomal dominant, 3
Reversed 0
HGVS NC_000001.10:g.55509631T>G
CLNSRC
CLNACC RCV000417273.1,