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rs563390335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs563390335(A;A)
Make rs563390335(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102777
GeneLDLR
is asnp
is mentioned by
dbSNPrs563390335
ebirs563390335
HLIrs563390335
Exacrs563390335
Varsomers563390335
Maprs563390335
PheGenIrs563390335
hapmaprs563390335
1000 genomesrs563390335
hgdprs563390335
ensemblrs563390335
gopubmedrs563390335
geneviewrs563390335
scholarrs563390335
googlers563390335
pharmgkbrs563390335
gwascentralrs563390335
openSNPrs563390335
23andMers563390335
23andMe allrs563390335
SNP Nexus

SNPshotrs563390335
SNPdbers563390335
MSV3drs563390335
GWAS Ctlgrs563390335
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 rs563390335(A,T;A,T)
Alt rs563390335(A,T;A,T)
Reference rs563390335(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213453C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000211634.2,