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rs2569548

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2569548(A;A)
Make rs2569548(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120435
GeneLDLR
is asnp
is mentioned by
dbSNPrs2569548
ebirs2569548
HLIrs2569548
Exacrs2569548
Varsomers2569548
Maprs2569548
PheGenIrs2569548
hapmaprs2569548
1000 genomesrs2569548
hgdprs2569548
ensemblrs2569548
gopubmedrs2569548
geneviewrs2569548
scholarrs2569548
googlers2569548
pharmgkbrs2569548
gwascentralrs2569548
openSNPrs2569548
23andMers2569548
23andMe allrs2569548
SNP Nexus

SNPshotrs2569548
SNPdbers2569548
MSV3drs2569548
GWAS Ctlgrs2569548
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs2569548(A,T;A,T)
Alt rs2569548(A,T;A,T)
Reference rs2569548(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 1
HGVS NC_000019.9:g.11231111C>A; NC_000019.9:g.11231111C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238125.1, RCV000237106.1,