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rs121908035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 4 Dominant mutation associated with Familial Hypercholesterolemia
(C;C) 0 common in complete genomics


Make rs121908035(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105599
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908035
ebirs121908035
HLIrs121908035
Exacrs121908035
Varsomers121908035
Maprs121908035
PheGenIrs121908035
hapmaprs121908035
1000 genomesrs121908035
hgdprs121908035
ensemblrs121908035
gopubmedrs121908035
geneviewrs121908035
scholarrs121908035
googlers121908035
pharmgkbrs121908035
gwascentralrs121908035
openSNPrs121908035
23andMers121908035
23andMe allrs121908035
SNP Nexus

SNPshotrs121908035
SNPdbers121908035
MSV3drs121908035
GWAS Ctlgrs121908035
Max Magnitude4

aka c.693C>A, p.Cys231Ter or C231X; also known as FH London 3

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

OMIM606945
Desc
Variant0048
Relatedalso
ClinVar
Risk rs121908035(A,G;A,G)
Alt rs121908035(A,G;A,G)
Reference rs121908035(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216275C>A; NC_000019.9:g.11216275C>G
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003928.6, RCV000237820.1,