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rs121908031

From SNPedia

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


Make rs121908031(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11120425
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908031
ebirs121908031
HLIrs121908031
Exacrs121908031
Varsomers121908031
Maprs121908031
PheGenIrs121908031
hapmaprs121908031
1000 genomesrs121908031
hgdprs121908031
ensemblrs121908031
gopubmedrs121908031
geneviewrs121908031
scholarrs121908031
googlers121908031
pharmgkbrs121908031
gwascentralrs121908031
openSNPrs121908031
23andMers121908031
23andMe allrs121908031
SNP Nexus

SNPshotrs121908031
SNPdbers121908031
MSV3drs121908031
GWAS Ctlgrs121908031
Max Magnitude4

aka c.2043C>A, p.Cys681Ter or C681X; also known as FH Lebanese

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

OMIM606945
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908031(A,G;A,G)
Alt rs121908031(A,G;A,G)
Reference rs121908031(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231101C>A; NC_000019.9:g.11231101C>G
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003887.7, RCV000238523.1,