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rs387906302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AGAA) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs387906302(-;-)
Make rs387906302(AGAA;AGAA)
ReferenceGRCh38 38.1/142
Chromosome19
Position11129573
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906302
ebirs387906302
HLIrs387906302
Exacrs387906302
Varsomers387906302
Maprs387906302
PheGenIrs387906302
hapmaprs387906302
1000 genomesrs387906302
hgdprs387906302
ensemblrs387906302
gopubmedrs387906302
geneviewrs387906302
scholarrs387906302
googlers387906302
pharmgkbrs387906302
gwascentralrs387906302
openSNPrs387906302
23andMers387906302
23andMe allrs387906302
SNP Nexus

SNPshotrs387906302
SNPdbers387906302
MSV3drs387906302
GWAS Ctlgrs387906302
Max Magnitude4

aka c.2447_2450dupAGAA or p.Asn817Lysfs

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

ClinVar
Risk rs387906302(AAGA;AAGA)
Alt rs387906302(AAGA;AAGA)
Reference rs387906302(;)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240246_11240249dupAGAA
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003895.5,