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rs387906301

From SNPedia

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


Make rs387906301(-;-)
ReferenceGRCh38 38.1/142
Chromosome19
Position11100292
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906301
ebirs387906301
HLIrs387906301
Exacrs387906301
Varsomers387906301
Maprs387906301
PheGenIrs387906301
hapmaprs387906301
1000 genomesrs387906301
hgdprs387906301
ensemblrs387906301
gopubmedrs387906301
geneviewrs387906301
scholarrs387906301
googlers387906301
pharmgkbrs387906301
gwascentralrs387906301
openSNPrs387906301
23andMers387906301
23andMe allrs387906301
SNP Nexus

SNPshotrs387906301
SNPdbers387906301
MSV3drs387906301
GWAS Ctlgrs387906301
Max Magnitude4

aka c.137_142delGCGATG or p.Asp47_Gly48del

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

ClinVar
Risk rs387906301(;)
Alt rs387906301(;)
Reference rs387906301(GCGATG;GCGATG)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210968_11210973delGCGATG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003869.4,