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rs875989924

From SNPedia

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


Make rs875989924(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116095
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989924
dbSNP (classic)rs875989924
ClinGenrs875989924
ebirs875989924
HLIrs875989924
Exacrs875989924
Gnomadrs875989924
Varsomers875989924
LitVarrs875989924
Maprs875989924
PheGenIrs875989924
Biobankrs875989924
1000 genomesrs875989924
hgdprs875989924
ensemblrs875989924
geneviewrs875989924
scholarrs875989924
googlers875989924
pharmgkbrs875989924
gwascentralrs875989924
openSNPrs875989924
23andMers875989924
SNPshotrs875989924
SNPdbers875989924
MSV3drs875989924
GWAS Ctlgrs875989924
Max Magnitude5
ClinVar
Risk rs875989924(G;G)
Alt rs875989924(G;G)
Reference Rs875989924(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226771T>G
CLNSRC
CLNACC RCV000211668.1,