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rs1003723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1003723(C;T)
Make rs1003723(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113505
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1003723
ebirs1003723
HLIrs1003723
Exacrs1003723
Varsomers1003723
Maprs1003723
PheGenIrs1003723
hapmaprs1003723
1000 genomesrs1003723
hgdprs1003723
ensemblrs1003723
gopubmedrs1003723
geneviewrs1003723
scholarrs1003723
googlers1003723
pharmgkbrs1003723
gwascentralrs1003723
openSNPrs1003723
23andMers1003723
23andMe allrs1003723
SNP Nexus

SNPshotrs1003723
SNPdbers1003723
MSV3drs1003723
GWAS Ctlgrs1003723
GMAF0.2819
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 19888660OA-icon.png] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China


[PMID 18296645OA-icon.png] Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.


[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity


ClinVar
Risk rs1003723(T;T)
Alt rs1003723(T;T)
Reference rs1003723(C;C)
Significance Non-pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224181C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237169.1,