Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;G) 4 hypercholesterolemia risk; heterozygote
(G;G) 2.9 hypercholesterolemia risk; homozygote
ReferenceGRCh38 38.1/141
Chromosome19
Position11105470
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908034
ebirs121908034
HLIrs121908034
Exacrs121908034
Varsomers121908034
Maprs121908034
PheGenIrs121908034
hapmaprs121908034
1000 genomesrs121908034
hgdprs121908034
ensemblrs121908034
gopubmedrs121908034
geneviewrs121908034
scholarrs121908034
googlers121908034
pharmgkbrs121908034
gwascentralrs121908034
openSNPrs121908034
23andMers121908034
23andMe allrs121908034
SNP Nexus

SNPshotrs121908034
SNPdbers121908034
MSV3drs121908034
GWAS Ctlgrs121908034
Max Magnitude4
rs121908034, also known as c.564C>G, Y188X or Tyr167Ter, and as FH Druze, is a SNP in the LDLR low density lipoprotein receptor gene.

For a clinical case example of this SNP, see 'Clinical Case 1' in Box 1 of [PMID 19602640OA-icon.png].

See also OMIM 606945.0045.

OMIM606945
Desc
Variant0045
Relatedalso
ClinVar
Risk rs121908034(A,G,T;A,G,T)
Alt rs121908034(A,G,T;A,G,T)
Reference rs121908034(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216146C>A; NC_000019.9:g.11216146C>G; NC_000019.9:g.11216146C>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000237391.1, RCV000003925.5, RCV000211646.1,