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rs879254603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Familial Hypercholesterolemia
Make rs879254603(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105538
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254603
dbSNP (classic)rs879254603
ClinGenrs879254603
ebirs879254603
HLIrs879254603
Exacrs879254603
Gnomadrs879254603
Varsomers879254603
LitVarrs879254603
Maprs879254603
PheGenIrs879254603
Biobankrs879254603
1000 genomesrs879254603
hgdprs879254603
ensemblrs879254603
geneviewrs879254603
scholarrs879254603
googlers879254603
pharmgkbrs879254603
gwascentralrs879254603
openSNPrs879254603
23andMers879254603
23andMe allrs879254603
SNPshotrs879254603
SNPdbers879254603
MSV3drs879254603
GWAS Ctlgrs879254603
Max Magnitude5
ClinVar
Risk rs879254603(T;T)
Alt rs879254603(T;T)
Reference Rs879254603(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216214A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238558.1,