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rs879254952

From SNPedia

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


Make rs879254952(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116106
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254952
dbSNP (old)rs879254952
ClinGenrs879254952
ebirs879254952
HLIrs879254952
Exacrs879254952
Gnomadrs879254952
Varsomers879254952
Maprs879254952
PheGenIrs879254952
Biobankrs879254952
1000 genomesrs879254952
hgdprs879254952
ensemblrs879254952
gopubmedrs879254952
geneviewrs879254952
scholarrs879254952
googlers879254952
pharmgkbrs879254952
gwascentralrs879254952
openSNPrs879254952
23andMers879254952
23andMe allrs879254952
SNPshotrs879254952
SNPdbers879254952
MSV3drs879254952
GWAS Ctlgrs879254952
Max Magnitude5
ClinVar
Risk rs879254952(A;A)
Alt rs879254952(A;A)
Reference Rs879254952(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226782G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237743.2,