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rs771917370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Familial Hypercholesterolemia
(C;T) 5 Familial Hypercholesterolemia
Make rs771917370(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105537
GeneLDLR
is asnp
is mentioned by
dbSNPrs771917370
dbSNP (classic)rs771917370
ClinGenrs771917370
ebirs771917370
HLIrs771917370
Exacrs771917370
Gnomadrs771917370
Varsomers771917370
LitVarrs771917370
Maprs771917370
PheGenIrs771917370
Biobankrs771917370
1000 genomesrs771917370
hgdprs771917370
ensemblrs771917370
geneviewrs771917370
scholarrs771917370
googlers771917370
pharmgkbrs771917370
gwascentralrs771917370
openSNPrs771917370
23andMers771917370
SNPshotrs771917370
SNPdbers771917370
MSV3drs771917370
GWAS Ctlgrs771917370
Max Magnitude5
ClinVar
Risk rs771917370(G;G) rs771917370(T;T)
Alt rs771917370(G;G) rs771917370(T;T)
Reference Rs771917370(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216213C>G; NC_000019.9:g.11216213C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238231.1, RCV000237464.1,