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rs121908032

From SNPedia

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


Make rs121908032(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11129562
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908032
ebirs121908032
HLIrs121908032
Exacrs121908032
Varsomers121908032
Maprs121908032
PheGenIrs121908032
hapmaprs121908032
1000 genomesrs121908032
hgdprs121908032
ensemblrs121908032
gopubmedrs121908032
geneviewrs121908032
scholarrs121908032
googlers121908032
pharmgkbrs121908032
gwascentralrs121908032
openSNPrs121908032
23andMers121908032
23andMe allrs121908032
SNP Nexus

SNPshotrs121908032
SNPdbers121908032
MSV3drs121908032
GWAS Ctlgrs121908032
Max Magnitude4

aka c.2439G>A, p.Trp813Ter or W813X; also known as FH Bahrain

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

OMIM606945
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908032(A;A)
Alt rs121908032(A;A)
Reference rs121908032(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240238G>A
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003892.5,