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rs879255026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Familial Hypercholesterolemia
Make rs879255026(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116951
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255026
dbSNP (old)rs879255026
ClinGenrs879255026
ebirs879255026
HLIrs879255026
Exacrs879255026
Gnomadrs879255026
Varsomers879255026
Maprs879255026
PheGenIrs879255026
Biobankrs879255026
1000 genomesrs879255026
hgdprs879255026
ensemblrs879255026
gopubmedrs879255026
geneviewrs879255026
scholarrs879255026
googlers879255026
pharmgkbrs879255026
gwascentralrs879255026
openSNPrs879255026
23andMers879255026
23andMe allrs879255026
SNPshotrs879255026
SNPdbers879255026
MSV3drs879255026
GWAS Ctlgrs879255026
Max Magnitude5
ClinVar
Risk rs879255026(T;T)
Alt rs879255026(T;T)
Reference Rs879255026(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227627G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237442.1,