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rs879254655

From SNPedia

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


Make rs879254655(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11106576
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254655
dbSNP (classic)rs879254655
ClinGenrs879254655
ebirs879254655
HLIrs879254655
Exacrs879254655
Gnomadrs879254655
Varsomers879254655
LitVarrs879254655
Maprs879254655
PheGenIrs879254655
Biobankrs879254655
1000 genomesrs879254655
hgdprs879254655
ensemblrs879254655
geneviewrs879254655
scholarrs879254655
googlers879254655
pharmgkbrs879254655
gwascentralrs879254655
openSNPrs879254655
23andMers879254655
SNPshotrs879254655
SNPdbers879254655
MSV3drs879254655
GWAS Ctlgrs879254655
Max Magnitude5
ClinVar
Risk rs879254655(C;C) rs879254655(G;G)
Alt rs879254655(C;C) rs879254655(G;G)
Reference Rs879254655(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217252T>C; NC_000019.9:g.11217252T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237732.1, RCV000417291.1,