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rs121908043

From SNPedia

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


Make rs121908043(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113307
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs121908043
ebirs121908043
HLIrs121908043
Exacrs121908043
Varsomers121908043
Maprs121908043
PheGenIrs121908043
hapmaprs121908043
1000 genomesrs121908043
hgdprs121908043
ensemblrs121908043
gopubmedrs121908043
geneviewrs121908043
scholarrs121908043
googlers121908043
pharmgkbrs121908043
gwascentralrs121908043
openSNPrs121908043
23andMers121908043
23andMe allrs121908043
SNP Nexus

SNPshotrs121908043
SNPdbers121908043
MSV3drs121908043
GWAS Ctlgrs121908043
Max Magnitude4

aka c.1216C>A or p.Arg406=; also known as c.1216C>T or p.Arg406Trp

The A variant is reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease, based on the introduction of a novel splice site.

The T 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
Variant0065
Relatedalso
ClinVar
Risk rs121908043(A,T;A,T)
Alt rs121908043(A,T;A,T)
Reference rs121908043(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11223983C>A; NC_000019.9:g.11223983C>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003944.3, RCV000211575.2,