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rs121908024

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs121908024(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11100252
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908024
ebirs121908024
HLIrs121908024
Exacrs121908024
Varsomers121908024
Maprs121908024
PheGenIrs121908024
hapmaprs121908024
1000 genomesrs121908024
hgdprs121908024
ensemblrs121908024
gopubmedrs121908024
geneviewrs121908024
scholarrs121908024
googlers121908024
pharmgkbrs121908024
gwascentralrs121908024
openSNPrs121908024
23andMers121908024
23andMe allrs121908024
SNP Nexus

SNPshotrs121908024
SNPdbers121908024
MSV3drs121908024
GWAS Ctlgrs121908024
Max Magnitude4

aka c.97C>T, p.Gln33Ter or Q33X; also known as FH Turkey

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

OMIM606945
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908024(T;T)
Alt rs121908024(T;T)
Reference rs121908024(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210928C>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003868.4,