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rs5929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5929(C;T)
Make rs5929(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11116124
GeneLDLR
is asnp
is mentioned by
dbSNPrs5929
ebirs5929
HLIrs5929
Exacrs5929
Varsomers5929
Maprs5929
PheGenIrs5929
hapmaprs5929
1000 genomesrs5929
hgdprs5929
ensemblrs5929
gopubmedrs5929
geneviewrs5929
scholarrs5929
googlers5929
pharmgkbrs5929
gwascentralrs5929
openSNPrs5929
23andMers5929
23andMe allrs5929
SNP Nexus

SNPshotrs5929
SNPdbers5929
MSV3drs5929
GWAS Ctlgrs5929
GMAF0.1235
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 20308432OA-icon.png] Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry


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


ClinVar
Risk rs5929(T;T)
Alt rs5929(T;T)
Reference rs5929(C;C)
Significance Non-pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226800C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238018.1,