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rs28941776

From SNPedia

Familial Hypercholesterolemia. A GGT-to-GAT 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
Position11116153
GeneLDLR
is asnp
is mentioned by
dbSNPrs28941776
ebirs28941776
HLIrs28941776
Exacrs28941776
Varsomers28941776
Maprs28941776
PheGenIrs28941776
hapmaprs28941776
1000 genomesrs28941776
hgdprs28941776
ensemblrs28941776
gopubmedrs28941776
geneviewrs28941776
scholarrs28941776
googlers28941776
pharmgkbrs28941776
gwascentralrs28941776
openSNPrs28941776
23andMers28941776
23andMe allrs28941776
SNP Nexus

SNPshotrs28941776
SNPdbers28941776
MSV3drs28941776
GWAS Ctlgrs28941776
Max Magnitude4

aka c.1646G>A, p.Gly549Asp or G549D; also known as FH Genoa

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

OMIM606945
DescFH GENOA
Variant0013
Relatedalso
Neighborrs28942081
Distance9
Neighborrs28942086
Distance44
ClinVar
Risk rs28941776(A;A)
Alt rs28941776(A;A)
Reference rs28941776(G;G)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11226829G>A; NC_000019.9:g.11226829G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003886.4, RCV000161997.1, RCV000237367.1,