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rs28942081

From SNPedia

Familial Hypercholesterolemia. A GGC-to-GAC mutation is responsible for this variant (Leitersdorf and Hobbs, 1990).
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome19
Position11116144
GeneLDLR
is asnp
is mentioned by
dbSNPrs28942081
ebirs28942081
HLIrs28942081
Exacrs28942081
Varsomers28942081
Maprs28942081
PheGenIrs28942081
hapmaprs28942081
1000 genomesrs28942081
hgdprs28942081
ensemblrs28942081
gopubmedrs28942081
geneviewrs28942081
scholarrs28942081
googlers28942081
pharmgkbrs28942081
gwascentralrs28942081
openSNPrs28942081
23andMers28942081
23andMe allrs28942081
SNP Nexus

SNPshotrs28942081
SNPdbers28942081
MSV3drs28942081
GWAS Ctlgrs28942081
Max Magnitude4

aka c.1637G>A, p.Gly546Asp or G546D; also known as FH Saint Omer

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

OMIM606945
DescFH SAINT OMER
Variant0012
Relatedalso
Neighborrs28941776
Distance9
ClinVar
Risk rs28942081(A;A)
Alt rs28942081(A;A)
Reference rs28942081(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226820G>A; NC_000019.9:g.11226820G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003885.5, RCV000237102.1,