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rs758194385

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs758194385(A;G)
Make rs758194385(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116198
GeneLDLR
is asnp
is mentioned by
dbSNPrs758194385
ebirs758194385
HLIrs758194385
Exacrs758194385
Varsomers758194385
Maprs758194385
PheGenIrs758194385
hapmaprs758194385
1000 genomesrs758194385
hgdprs758194385
ensemblrs758194385
gopubmedrs758194385
geneviewrs758194385
scholarrs758194385
googlers758194385
pharmgkbrs758194385
gwascentralrs758194385
openSNPrs758194385
23andMers758194385
23andMe allrs758194385
SNP Nexus

SNPshotrs758194385
SNPdbers758194385
MSV3drs758194385
GWAS Ctlgrs758194385
Max Magnitude0
ClinVar
Risk rs758194385(G;G)
Alt rs758194385(G;G)
Reference rs758194385(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226874A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000210237.2,