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rs879254753

From SNPedia

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


Make rs879254753(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11110723
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254753
dbSNP (classic)rs879254753
ClinGenrs879254753
ebirs879254753
HLIrs879254753
Exacrs879254753
Gnomadrs879254753
Varsomers879254753
LitVarrs879254753
Maprs879254753
PheGenIrs879254753
Biobankrs879254753
1000 genomesrs879254753
hgdprs879254753
ensemblrs879254753
geneviewrs879254753
scholarrs879254753
googlers879254753
pharmgkbrs879254753
gwascentralrs879254753
openSNPrs879254753
23andMers879254753
23andMe allrs879254753
SNPshotrs879254753
SNPdbers879254753
MSV3drs879254753
GWAS Ctlgrs879254753
Max Magnitude5
ClinVar
Risk rs879254753(A;A) rs879254753(C;C) rs879254753(G;G)
Alt rs879254753(A;A) rs879254753(C;C) rs879254753(G;G)
Reference Rs879254753(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221399T>A; NC_000019.9:g.11221399T>C; NC_000019.9:g.11221399T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238172.1, RCV000237151.1, RCV000237730.1,