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rs387906307

From SNPedia

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


Make rs387906307(-;-)
ReferenceGRCh38 38.1/142
Chromosome19
Position11089411
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906307
ebirs387906307
HLIrs387906307
Exacrs387906307
Varsomers387906307
Maprs387906307
PheGenIrs387906307
hapmaprs387906307
1000 genomesrs387906307
hgdprs387906307
ensemblrs387906307
gopubmedrs387906307
geneviewrs387906307
scholarrs387906307
googlers387906307
pharmgkbrs387906307
gwascentralrs387906307
openSNPrs387906307
23andMers387906307
23andMe allrs387906307
SNP Nexus

SNPshotrs387906307
SNPdbers387906307
MSV3drs387906307
GWAS Ctlgrs387906307
Max Magnitude4

aka c.-138delT

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

ClinVar
Risk rs387906307(;)
Alt rs387906307(;)
Reference rs387906307(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200087delT
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003943.5,