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rs121908044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs121908044(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105527
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908044
ebirs121908044
HLIrs121908044
Exacrs121908044
Varsomers121908044
Maprs121908044
PheGenIrs121908044
hapmaprs121908044
1000 genomesrs121908044
hgdprs121908044
ensemblrs121908044
gopubmedrs121908044
geneviewrs121908044
scholarrs121908044
googlers121908044
pharmgkbrs121908044
gwascentralrs121908044
openSNPrs121908044
23andMers121908044
23andMe allrs121908044
SNP Nexus

SNPshotrs121908044
SNPdbers121908044
MSV3drs121908044
GWAS Ctlgrs121908044
Max Magnitude4
OMIM606945
Desc
Variant0066
Relatedalso

aka c.621C>T or p.Gly207=

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

ClinVar
Risk rs121908044(G,T;G,T)
Alt rs121908044(G,T;G,T)
Reference rs121908044(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216203C>G; NC_000019.9:g.11216203C>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000237206.1, RCV000003945.3,