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rs879254465

From SNPedia

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


Make rs879254465(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11102785
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254465
dbSNP (classic)rs879254465
ClinGenrs879254465
ebirs879254465
HLIrs879254465
Exacrs879254465
Gnomadrs879254465
Varsomers879254465
LitVarrs879254465
Maprs879254465
PheGenIrs879254465
Biobankrs879254465
1000 genomesrs879254465
hgdprs879254465
ensemblrs879254465
geneviewrs879254465
scholarrs879254465
googlers879254465
pharmgkbrs879254465
gwascentralrs879254465
openSNPrs879254465
23andMers879254465
SNPshotrs879254465
SNPdbers879254465
MSV3drs879254465
GWAS Ctlgrs879254465
Max Magnitude5
ClinVar
Risk rs879254465(G;G)
Alt rs879254465(G;G)
Reference Rs879254465(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213461T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238210.1,