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rs879255211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Familial Hypercholesterolemia
Make rs879255211(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11129554
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255211
dbSNP (classic)rs879255211
ClinGenrs879255211
ebirs879255211
HLIrs879255211
Exacrs879255211
Gnomadrs879255211
Varsomers879255211
LitVarrs879255211
Maprs879255211
PheGenIrs879255211
Biobankrs879255211
1000 genomesrs879255211
hgdprs879255211
ensemblrs879255211
geneviewrs879255211
scholarrs879255211
googlers879255211
pharmgkbrs879255211
gwascentralrs879255211
openSNPrs879255211
23andMers879255211
23andMe allrs879255211
SNPshotrs879255211
SNPdbers879255211
MSV3drs879255211
GWAS Ctlgrs879255211
Max Magnitude5
ClinVar
Risk rs879255211(T;T)
Alt rs879255211(T;T)
Reference Rs879255211(A;A)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240230A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237271.1,