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rs121908042

From SNPedia

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


Make rs121908042(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105232
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908042
ebirs121908042
HLIrs121908042
Exacrs121908042
Varsomers121908042
Maprs121908042
PheGenIrs121908042
hapmaprs121908042
1000 genomesrs121908042
hgdprs121908042
ensemblrs121908042
gopubmedrs121908042
geneviewrs121908042
scholarrs121908042
googlers121908042
pharmgkbrs121908042
gwascentralrs121908042
openSNPrs121908042
23andMers121908042
23andMe allrs121908042
SNP Nexus

SNPshotrs121908042
SNPdbers121908042
MSV3drs121908042
GWAS Ctlgrs121908042
Max Magnitude4

aka c.326G>C, p.Cys109Ser or C109S; and also known c.326G>A, p.Cys109Tyr or C109Y

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

The A variant of this SNP in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]

OMIM606945
Desc
Variant0062
Relatedalso
ClinVar
Risk rs121908042(A,C,T;A,C,T)
Alt rs121908042(A,C,T;A,C,T)
Reference rs121908042(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215908G>A; NC_000019.9:g.11215908G>C; NC_000019.9:g.11215908G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000211658.2, RCV000003941.3, RCV000237657.1,