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rs28942080

From SNPedia

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
Position11113743
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs28942080
ebirs28942080
HLIrs28942080
Exacrs28942080
Varsomers28942080
Maprs28942080
PheGenIrs28942080
hapmaprs28942080
1000 genomesrs28942080
hgdprs28942080
ensemblrs28942080
gopubmedrs28942080
geneviewrs28942080
scholarrs28942080
googlers28942080
pharmgkbrs28942080
gwascentralrs28942080
openSNPrs28942080
23andMers28942080
23andMe allrs28942080
SNP Nexus

SNPshotrs28942080
SNPdbers28942080
MSV3drs28942080
GWAS Ctlgrs28942080
Max Magnitude4

aka c.1567G>A, p.Val523Met or V523M; also known as FH Kuwait

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease [PMID 2377494OA-icon.png] Familial Hypercholesterolemia

OMIM606945
DescFH KUWAIT
Variant0011
Relatedalso
Neighborrs28942079
Distance361
ClinVar
Risk rs28942080(A,C;A,C)
Alt rs28942080(A,C;A,C)
Reference rs28942080(G;G)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11224419G>A; NC_000019.9:g.11224419G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003884.5, RCV000161992.2, RCV000238520.1,