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rs879254517

From SNPedia

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


Make rs879254517(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105321
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254517
dbSNP (classic)rs879254517
ClinGenrs879254517
ebirs879254517
HLIrs879254517
Exacrs879254517
Gnomadrs879254517
Varsomers879254517
LitVarrs879254517
Maprs879254517
PheGenIrs879254517
Biobankrs879254517
1000 genomesrs879254517
hgdprs879254517
ensemblrs879254517
geneviewrs879254517
scholarrs879254517
googlers879254517
pharmgkbrs879254517
gwascentralrs879254517
openSNPrs879254517
23andMers879254517
23andMe allrs879254517
SNPshotrs879254517
SNPdbers879254517
MSV3drs879254517
GWAS Ctlgrs879254517
Max Magnitude5
ClinVar
Risk rs879254517(A;A) rs879254517(C;C)
Alt rs879254517(A;A) rs879254517(C;C)
Reference Rs879254517(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215997G>A; NC_000019.9:g.11215997G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237450.1, RCV000238010.1,