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rs28942078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3
(A;G) 4 Dominant mutation possibly associated with Familial Hypercholesterolemia
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome19
Position11113376
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs28942078
ebirs28942078
HLIrs28942078
Exacrs28942078
Varsomers28942078
Maprs28942078
PheGenIrs28942078
hapmaprs28942078
1000 genomesrs28942078
hgdprs28942078
ensemblrs28942078
gopubmedrs28942078
geneviewrs28942078
scholarrs28942078
googlers28942078
pharmgkbrs28942078
gwascentralrs28942078
openSNPrs28942078
23andMers28942078
23andMe allrs28942078
SNP Nexus

SNPshotrs28942078
SNPdbers28942078
MSV3drs28942078
GWAS Ctlgrs28942078
Max Magnitude4

aka c.1285G>A, p.Val429Met or V429M; also known as FH Afrikaner 2

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

(A;A) familial hypercholesterolemia

23% frequency among Afrikaners, which, if true, would mean a substantial tendency towards hypercholesterolemia if this variant is truly associated with such a risk

1.5% frequency among Dutch

OMIM606945
DescFH AFRIKANER 2
Variant0009
Relatedalso
Neighborrs28942079
Distance6


ClinVar
Risk rs28942078(A;A)
Alt rs28942078(A;A)
Reference rs28942078(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224052G>A; NC_000019.9:g.11224052G>C; NC_000019.9:g.11224052G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003882.7, RCV000211588.2, RCV000238117.1,