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rs121908028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs121908028(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105587
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908028
ebirs121908028
HLIrs121908028
Exacrs121908028
Varsomers121908028
Maprs121908028
PheGenIrs121908028
hapmaprs121908028
1000 genomesrs121908028
hgdprs121908028
ensemblrs121908028
gopubmedrs121908028
geneviewrs121908028
scholarrs121908028
googlers121908028
pharmgkbrs121908028
gwascentralrs121908028
openSNPrs121908028
23andMers121908028
23andMe allrs121908028
SNP Nexus

SNPshotrs121908028
SNPdbers121908028
MSV3drs121908028
GWAS Ctlgrs121908028
Max Magnitude4

aka c.681C>G, p.Asp227Glu or D227E; also known as FH Afrikaner 1 and FH Maine

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

OMIM606945
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908028(G,T;G,T)
Alt rs121908028(G,T;G,T)
Reference rs121908028(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216263C>G
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003876.8,