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rs121908025

From SNPedia

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


Make rs121908025(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11102732
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908025
ebirs121908025
HLIrs121908025
Exacrs121908025
Varsomers121908025
Maprs121908025
PheGenIrs121908025
hapmaprs121908025
1000 genomesrs121908025
hgdprs121908025
ensemblrs121908025
gopubmedrs121908025
geneviewrs121908025
scholarrs121908025
googlers121908025
pharmgkbrs121908025
gwascentralrs121908025
openSNPrs121908025
23andMers121908025
23andMe allrs121908025
SNP Nexus

SNPshotrs121908025
SNPdbers121908025
MSV3drs121908025
GWAS Ctlgrs121908025
Max Magnitude4

aka c.259T>G, p.Trp87Gly or W87G; also known as FH French Canadian 4

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

OMIM606945
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908025(G;G)
Alt rs121908025(G;G)
Reference rs121908025(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213408T>G
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003870.9,