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rs879255152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Familial Hypercholesterolemia
Make rs879255152(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11123197
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255152
dbSNP (classic)rs879255152
ClinGenrs879255152
ebirs879255152
HLIrs879255152
Exacrs879255152
Gnomadrs879255152
Varsomers879255152
LitVarrs879255152
Maprs879255152
PheGenIrs879255152
Biobankrs879255152
1000 genomesrs879255152
hgdprs879255152
ensemblrs879255152
geneviewrs879255152
scholarrs879255152
googlers879255152
pharmgkbrs879255152
gwascentralrs879255152
openSNPrs879255152
23andMers879255152
SNPshotrs879255152
SNPdbers879255152
MSV3drs879255152
GWAS Ctlgrs879255152
Max Magnitude5
ClinVar
Risk rs879255152(T;T)
Alt rs879255152(T;T)
Reference Rs879255152(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11233873C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237109.1,