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rs879255000

From SNPedia

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


Make rs879255000(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116882
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255000
dbSNP (classic)rs879255000
ClinGenrs879255000
ebirs879255000
HLIrs879255000
Exacrs879255000
Gnomadrs879255000
Varsomers879255000
LitVarrs879255000
Maprs879255000
PheGenIrs879255000
Biobankrs879255000
1000 genomesrs879255000
hgdprs879255000
ensemblrs879255000
geneviewrs879255000
scholarrs879255000
googlers879255000
pharmgkbrs879255000
gwascentralrs879255000
openSNPrs879255000
23andMers879255000
23andMe allrs879255000
SNPshotrs879255000
SNPdbers879255000
MSV3drs879255000
GWAS Ctlgrs879255000
Max Magnitude5
ClinVar
Risk rs879255000(C;C) rs879255000(G;G)
Alt rs879255000(C;C) rs879255000(G;G)
Reference Rs879255000(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227558T>C; NC_000019.9:g.11227558T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237252.2, RCV000238365.2,