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rs28942079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) risk of hypercholesterolemia
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position11113382
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs28942079
ebirs28942079
HLIrs28942079
Exacrs28942079
Varsomers28942079
Maprs28942079
PheGenIrs28942079
hapmaprs28942079
1000 genomesrs28942079
hgdprs28942079
ensemblrs28942079
gopubmedrs28942079
geneviewrs28942079
scholarrs28942079
googlers28942079
pharmgkbrs28942079
gwascentralrs28942079
openSNPrs28942079
23andMers28942079
23andMe allrs28942079
SNP Nexus

SNPshotrs28942079
SNPdbers28942079
MSV3drs28942079
GWAS Ctlgrs28942079
Max Magnitude4

aka c.1291G>A, p.Ala431Thr or A431T; also known as FH Algeria

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

OMIM606945
DescFH ALGERIA
Variant0010
Relatedalso
Neighborrs28942078
Distance6
Neighborrs28942080
Distance361


ClinVar
Risk rs28942079(A,C;A,C)
Alt rs28942079(A,C;A,C)
Reference rs28942079(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224058G>A; NC_000019.9:g.11224058G>C
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003883.4, RCV000030126.1,