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rs879255095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Familial Hypercholesterolemia
(A;G) 5 Familial Hypercholesterolemia
Make rs879255095(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11120225
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255095
dbSNP (classic)rs879255095
ClinGenrs879255095
ebirs879255095
HLIrs879255095
Exacrs879255095
Gnomadrs879255095
Varsomers879255095
LitVarrs879255095
Maprs879255095
PheGenIrs879255095
Biobankrs879255095
1000 genomesrs879255095
hgdprs879255095
ensemblrs879255095
geneviewrs879255095
scholarrs879255095
googlers879255095
pharmgkbrs879255095
gwascentralrs879255095
openSNPrs879255095
23andMers879255095
SNPshotrs879255095
SNPdbers879255095
MSV3drs879255095
GWAS Ctlgrs879255095
Max Magnitude5
ClinVar
Risk rs879255095(G;G)
Alt rs879255095(G;G)
Reference Rs879255095(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230901A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237382.1,