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rs5927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5927(A;G)
Make rs5927(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position11123265
GeneLDLR
is asnp
is mentioned by
dbSNPrs5927
ebirs5927
HLIrs5927
Exacrs5927
Varsomers5927
Maprs5927
PheGenIrs5927
hapmaprs5927
1000 genomesrs5927
hgdprs5927
ensemblrs5927
gopubmedrs5927
geneviewrs5927
scholarrs5927
googlers5927
pharmgkbrs5927
gwascentralrs5927
openSNPrs5927
23andMers5927
23andMe allrs5927
SNP Nexus

SNPshotrs5927
SNPdbers5927
MSV3drs5927
GWAS Ctlgrs5927
Max Magnitude0
? (A;A) (A;G) (G;G) 28

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


ClinVar
Risk rs5927(G;G)
Alt rs5927(G;G)
Reference rs5927(A;A)
Significance Non-pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11233941A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238103.1,