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rs28942084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
(T;T) 2 hypercholesterolemia risk; homozygote
ReferenceGRCh38 38.1/141
Chromosome19
Position11120436
GeneLDLR
is asnp
is mentioned by
dbSNPrs28942084
ebirs28942084
HLIrs28942084
Exacrs28942084
Varsomers28942084
Maprs28942084
PheGenIrs28942084
hapmaprs28942084
1000 genomesrs28942084
hgdprs28942084
ensemblrs28942084
gopubmedrs28942084
geneviewrs28942084
scholarrs28942084
googlers28942084
pharmgkbrs28942084
gwascentralrs28942084
openSNPrs28942084
23andMers28942084
23andMe allrs28942084
SNP Nexus

SNPshotrs28942084
SNPdbers28942084
MSV3drs28942084
GWAS Ctlgrs28942084
Max Magnitude4
rs28942084, also known as P685L or Pro664Leu, and as FH Zambia, is a SNP in the LDLR low density lipoprotein receptor gene. It has been associated with cases of familial hypercholesterolemia (FH). The risk allele is rs28942084(T).
OMIM606945
DescFH ZAMBIA
Variant0017
Relatedalso
Neighborrs28942083
Distance54
ClinVar
Risk rs28942084(T;T)
Alt rs28942084(T;T)
Reference rs28942084(C;C)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11231112C>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003891.7, RCV000162007.1,