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rs28942083

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
Position11120382
GeneLDLR
is asnp
is mentioned by
dbSNPrs28942083
ebirs28942083
HLIrs28942083
Exacrs28942083
Varsomers28942083
Maprs28942083
PheGenIrs28942083
hapmaprs28942083
1000 genomesrs28942083
hgdprs28942083
ensemblrs28942083
gopubmedrs28942083
geneviewrs28942083
scholarrs28942083
googlers28942083
pharmgkbrs28942083
gwascentralrs28942083
openSNPrs28942083
23andMers28942083
23andMe allrs28942083
SNP Nexus

SNPshotrs28942083
SNPdbers28942083
MSV3drs28942083
GWAS Ctlgrs28942083
Max Magnitude4

aka c.2000G>A, p.Cys667Tyr or C667Y; also known as FH French Canadian 2

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

OMIM606945
DescFH FRENCH CANADIAN 2
Variant0015
Relatedalso
Neighborrs28942084
Distance54
ClinVar
Risk rs28942083(A,T;A,T)
Alt rs28942083(A,T;A,T)
Reference rs28942083(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231058G>A; NC_000019.9:g.11231058G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000030131.6, RCV000237926.1,



[PMID 11668627] Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.


[PMID 12406975] Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.


[PMID 15241806] Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.


[PMID 17426749] Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.


[PMID 19318025] Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.