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rs879254976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar


Make rs879254976(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116168
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254976
dbSNP (classic)rs879254976
ClinGenrs879254976
ebirs879254976
HLIrs879254976
Exacrs879254976
Gnomadrs879254976
Varsomers879254976
LitVarrs879254976
Maprs879254976
PheGenIrs879254976
Biobankrs879254976
1000 genomesrs879254976
hgdprs879254976
ensemblrs879254976
geneviewrs879254976
scholarrs879254976
googlers879254976
pharmgkbrs879254976
gwascentralrs879254976
openSNPrs879254976
23andMers879254976
23andMe allrs879254976
SNPshotrs879254976
SNPdbers879254976
MSV3drs879254976
GWAS Ctlgrs879254976
Max Magnitude5
ClinVar
Risk rs879254976(A;A) rs879254976(T;T)
Alt rs879254976(A;A) rs879254976(T;T)
Reference Rs879254976(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226844C>A; NC_000019.9:g.11226844C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237882.1, RCV000238424.1,