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rs199774121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 4 Dominant mutation associated with Familial Hypercholesterolemia
(C;C) 0 common/normal


Make rs199774121(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105335
GeneLDLR
is asnp
is mentioned by
dbSNPrs199774121
ebirs199774121
HLIrs199774121
Exacrs199774121
Varsomers199774121
Maprs199774121
PheGenIrs199774121
hapmaprs199774121
1000 genomesrs199774121
hgdprs199774121
ensemblrs199774121
gopubmedrs199774121
geneviewrs199774121
scholarrs199774121
googlers199774121
pharmgkbrs199774121
gwascentralrs199774121
openSNPrs199774121
23andMers199774121
23andMe allrs199774121
SNP Nexus

SNPshotrs199774121
SNPdbers199774121
MSV3drs199774121
GWAS Ctlgrs199774121
Max Magnitude4
This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]
ClinVar
Risk rs199774121(A;A)
Alt rs199774121(A;A)
Reference rs199774121(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216011C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000211567.2,