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

rs121908029

From SNPedia

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


Make rs121908029(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105588
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908029
ebirs121908029
HLIrs121908029
Exacrs121908029
Varsomers121908029
Maprs121908029
PheGenIrs121908029
hapmaprs121908029
1000 genomesrs121908029
hgdprs121908029
ensemblrs121908029
gopubmedrs121908029
geneviewrs121908029
scholarrs121908029
googlers121908029
pharmgkbrs121908029
gwascentralrs121908029
openSNPrs121908029
23andMers121908029
23andMe allrs121908029
SNP Nexus

SNPshotrs121908029
SNPdbers121908029
MSV3drs121908029
GWAS Ctlgrs121908029
Max Magnitude4

aka c.682G>A, p.Glu228Lys or E228K; also known as FH Mexico and FH French Canadian 3 an additional variant is c.682G>T, p.Glu228Ter or E228X

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

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
Variant0007
Relatedalso
ClinVar
Risk rs121908029(A,C,T;A,C,T)
Alt rs121908029(A,C,T;A,C,T)
Reference rs121908029(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216264G>A; NC_000019.9:g.11216264G>C; NC_000019.9:g.11216264G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003878.7, RCV000237530.1, RCV000211631.2,