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rs201016593

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201016593(A;A)
Make rs201016593(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11089559
GeneLDLR
is asnp
is mentioned by
dbSNPrs201016593
ebirs201016593
HLIrs201016593
Exacrs201016593
Varsomers201016593
Maprs201016593
PheGenIrs201016593
hapmaprs201016593
1000 genomesrs201016593
hgdprs201016593
ensemblrs201016593
gopubmedrs201016593
geneviewrs201016593
scholarrs201016593
googlers201016593
pharmgkbrs201016593
gwascentralrs201016593
openSNPrs201016593
23andMers201016593
23andMe allrs201016593
SNP Nexus

SNPshotrs201016593
SNPdbers201016593
MSV3drs201016593
GWAS Ctlgrs201016593
Max Magnitude0
ClinVar
Risk rs201016593(A;A)
Alt rs201016593(A;A)
Reference rs201016593(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200235G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237276.1,