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rs779913921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Make rs779913921(A;A)
Make rs779913921(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116099
GeneLDLR
is asnp
is mentioned by
dbSNPrs779913921
dbSNP (classic)rs779913921
ClinGenrs779913921
ebirs779913921
HLIrs779913921
Exacrs779913921
Gnomadrs779913921
Varsomers779913921
LitVarrs779913921
Maprs779913921
PheGenIrs779913921
Biobankrs779913921
1000 genomesrs779913921
hgdprs779913921
ensemblrs779913921
geneviewrs779913921
scholarrs779913921
googlers779913921
pharmgkbrs779913921
gwascentralrs779913921
openSNPrs779913921
23andMers779913921
SNPshotrs779913921
SNPdbers779913921
MSV3drs779913921
GWAS Ctlgrs779913921
Max Magnitude5
ClinVar
Risk rs779913921(A;A) rs779913921(G;G)
Alt rs779913921(A;A) rs779913921(G;G)
Reference Rs779913921(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226775T>G
CLNSRC
CLNACC RCV000211572.1,