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

rs387906305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AC) 4 Dominant mutation associated with Familial Hypercholesterolemia
(AC;AC) 0 common in clinvar


Make rs387906305(-;-)
ReferenceGRCh38 38.1/142
Chromosome19
Position11105586
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906305
ebirs387906305
HLIrs387906305
Exacrs387906305
Varsomers387906305
Maprs387906305
PheGenIrs387906305
hapmaprs387906305
1000 genomesrs387906305
hgdprs387906305
ensemblrs387906305
gopubmedrs387906305
geneviewrs387906305
scholarrs387906305
googlers387906305
pharmgkbrs387906305
gwascentralrs387906305
openSNPrs387906305
23andMers387906305
23andMe allrs387906305
SNP Nexus

SNPshotrs387906305
SNPdbers387906305
MSV3drs387906305
GWAS Ctlgrs387906305
Max Magnitude4

aka c.680_681delAC or p.Asp227Glyfs

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

ClinVar
Risk rs387906305(;)
Alt rs387906305(;)
Reference rs387906305(AC;AC)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216262_11216263delAC
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003929.6,