Have questions? Visit https://www.reddit.com/r/SNPedia

rs150021927

From SNPedia

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


Make rs150021927(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120381
GeneLDLR
is asnp
is mentioned by
dbSNPrs150021927
ebirs150021927
HLIrs150021927
Exacrs150021927
Varsomers150021927
Maprs150021927
PheGenIrs150021927
hapmaprs150021927
1000 genomesrs150021927
hgdprs150021927
ensemblrs150021927
gopubmedrs150021927
geneviewrs150021927
scholarrs150021927
googlers150021927
pharmgkbrs150021927
gwascentralrs150021927
openSNPrs150021927
23andMers150021927
23andMe allrs150021927
SNP Nexus

SNPshotrs150021927
SNPdbers150021927
MSV3drs150021927
GWAS Ctlgrs150021927
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 rs150021927(A,C;A,C)
Alt rs150021927(A,C;A,C)
Reference rs150021927(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231057T>A; NC_000019.9:g.11231057T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237795.1, RCV000238269.1,