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rs121908040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs121908040(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11106652
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908040
ebirs121908040
HLIrs121908040
Exacrs121908040
Varsomers121908040
Maprs121908040
PheGenIrs121908040
hapmaprs121908040
1000 genomesrs121908040
hgdprs121908040
ensemblrs121908040
gopubmedrs121908040
geneviewrs121908040
scholarrs121908040
googlers121908040
pharmgkbrs121908040
gwascentralrs121908040
openSNPrs121908040
23andMers121908040
23andMe allrs121908040
SNP Nexus

SNPshotrs121908040
SNPdbers121908040
MSV3drs121908040
GWAS Ctlgrs121908040
Max Magnitude4

aka c.782G>T, p.Cys261Phe or C261F

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

OMIM606945
Desc
Variant0059
Relatedalso
ClinVar
Risk rs121908040(T;T)
Alt rs121908040(T;T)
Reference rs121908040(G;G)
Significance Other
Disease Familial hypercholesterolemia Hypercholesterolaemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11217328G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003938.3, RCV000148568.1,