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rs879254550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Familial Hypercholesterolemia
Make rs879254550(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105412
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254550
dbSNP (classic)rs879254550
ClinGenrs879254550
ebirs879254550
HLIrs879254550
Exacrs879254550
Gnomadrs879254550
Varsomers879254550
LitVarrs879254550
Maprs879254550
PheGenIrs879254550
Biobankrs879254550
1000 genomesrs879254550
hgdprs879254550
ensemblrs879254550
geneviewrs879254550
scholarrs879254550
googlers879254550
pharmgkbrs879254550
gwascentralrs879254550
openSNPrs879254550
23andMers879254550
23andMe allrs879254550
SNPshotrs879254550
SNPdbers879254550
MSV3drs879254550
GWAS Ctlgrs879254550
Max Magnitude5
ClinVar
Risk rs879254550(T;T)
Alt rs879254550(T;T)
Reference Rs879254550(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216088A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237412.1,