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rs387906306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TGCAAGGACAAATCTGAC) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs387906306(-;-)
Make rs387906306(TGCAAGGACAAATCTGAC;TGCAAGGACAAATCTGAC)
ReferenceGRCh38 38.1/142
Chromosome19
Position11105587
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906306
ebirs387906306
HLIrs387906306
Exacrs387906306
Varsomers387906306
Maprs387906306
PheGenIrs387906306
hapmaprs387906306
1000 genomesrs387906306
hgdprs387906306
ensemblrs387906306
gopubmedrs387906306
geneviewrs387906306
scholarrs387906306
googlers387906306
pharmgkbrs387906306
gwascentralrs387906306
openSNPrs387906306
23andMers387906306
23andMe allrs387906306
SNP Nexus

SNPshotrs387906306
SNPdbers387906306
MSV3drs387906306
GWAS Ctlgrs387906306
Max Magnitude4

aka c.664_681dup18 or p.Asp227_Glu228insCysLysAspLysSerAsp

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

ClinVar
Risk rs387906306(CAAATCTGAC,CAATCTGAC,CAGGACAAATCTGAC,CATCTGAC,CTGAG,CTGCAAGGACAAATCTGAC;CAAATCTGAC,CAATCTGAC,CAGGACAAATCTGAC,CATCTGAC,CTGAG,CTGCAAGGACAAATCTGAC)
Alt rs387906306(CAAATCTGAC,CAATCTGAC,CAGGACAAATCTGAC,CATCTGAC,CTGAG,CTGCAAGGACAAATCTGAC;CAAATCTGAC,CAATCTGAC,CAGGACAAATCTGAC,CATCTGAC,CTGAG,CTGCAAGGACAAATCTGAC)
Reference rs387906306(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216246_11216263dup18; NC_000019.9:g.11216250_11216263dupAGGACAAATCTGAC; NC_000019.9:g.11216255_11216263dupAAATCTGAC; NC_000019.9:g.11216256_11216263dupAATCTGAC; NC_000019.9:g.11216257_11216263dupATCTGAC; NC_000019.9:g.11216263_11216264insTGAG
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003931.6, RCV000238275.1, RCV000238131.1, RCV000237733.1, RCV000238121.1, RCV000237411.1,