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

rs387906304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CCCATCA) 4 Dominant mutation associated with Familial Hypercholesterolemia
(ACCCATC;ACCCATC) 0 common in clinvar
Make rs387906304(-;-)
Make rs387906304(CCCATCA;CCCATCA)
ReferenceGRCh38 38.1/142
Chromosome19
Position11107499
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906304
ebirs387906304
HLIrs387906304
Exacrs387906304
Varsomers387906304
Maprs387906304
PheGenIrs387906304
hapmaprs387906304
1000 genomesrs387906304
hgdprs387906304
ensemblrs387906304
gopubmedrs387906304
geneviewrs387906304
scholarrs387906304
googlers387906304
pharmgkbrs387906304
gwascentralrs387906304
openSNPrs387906304
23andMers387906304
23andMe allrs387906304
SNP Nexus

SNPshotrs387906304
SNPdbers387906304
MSV3drs387906304
GWAS Ctlgrs387906304
Max Magnitude4

aka c.925_931delCCCATCA or p.Pro309Lysfs

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

ClinVar
Risk rs387906304(;)
Alt rs387906304(;)
Reference rs387906304(ACCCATC;ACCCATC)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218175_11218181delCCCATCA
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003927.5,