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rs121908039

From SNPedia

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


Make rs121908039(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105457
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908039
ebirs121908039
HLIrs121908039
Exacrs121908039
Varsomers121908039
Maprs121908039
PheGenIrs121908039
hapmaprs121908039
1000 genomesrs121908039
hgdprs121908039
ensemblrs121908039
gopubmedrs121908039
geneviewrs121908039
scholarrs121908039
googlers121908039
pharmgkbrs121908039
gwascentralrs121908039
openSNPrs121908039
23andMers121908039
23andMe allrs121908039
SNP Nexus

SNPshotrs121908039
SNPdbers121908039
MSV3drs121908039
GWAS Ctlgrs121908039
Max Magnitude4

aka c.551G>A, p.Cys184Tyr or C184Y; also known as FH Glasco

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

OMIM606945
Desc
Variant0058
Relatedalso
ClinVar
Risk rs121908039(A;A)
Alt rs121908039(A;A)
Reference rs121908039(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216133G>A
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003937.6,