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rs769318035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;G) 5 Familial Hypercholesterolemia


Make rs769318035(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105425
GeneLDLR
is asnp
is mentioned by
dbSNPrs769318035
dbSNP (classic)rs769318035
ClinGenrs769318035
ebirs769318035
HLIrs769318035
Exacrs769318035
Gnomadrs769318035
Varsomers769318035
LitVarrs769318035
Maprs769318035
PheGenIrs769318035
Biobankrs769318035
1000 genomesrs769318035
hgdprs769318035
ensemblrs769318035
geneviewrs769318035
scholarrs769318035
googlers769318035
pharmgkbrs769318035
gwascentralrs769318035
openSNPrs769318035
23andMers769318035
SNPshotrs769318035
SNPdbers769318035
MSV3drs769318035
GWAS Ctlgrs769318035
Max Magnitude5
ClinVar
Risk rs769318035(A;A) rs769318035(G;G) rs769318035(T;T)
Alt rs769318035(A;A) rs769318035(G;G) rs769318035(T;T)
Reference Rs769318035(C;C)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11216101C>A; NC_000019.9:g.11216101C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237782.1, RCV000238354.2, RCV000478384.1,