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rs140241383

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140241383(C;T)
Make rs140241383(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107432
GeneLDLR
is asnp
is mentioned by
dbSNPrs140241383
ebirs140241383
HLIrs140241383
Exacrs140241383
Varsomers140241383
Maprs140241383
PheGenIrs140241383
hapmaprs140241383
1000 genomesrs140241383
hgdprs140241383
ensemblrs140241383
gopubmedrs140241383
geneviewrs140241383
scholarrs140241383
googlers140241383
pharmgkbrs140241383
gwascentralrs140241383
openSNPrs140241383
23andMers140241383
23andMe allrs140241383
SNP Nexus

SNPshotrs140241383
SNPdbers140241383
MSV3drs140241383
GWAS Ctlgrs140241383
Max Magnitude0
ClinVar
Risk rs140241383(A,T;A,T)
Alt rs140241383(A,T;A,T)
Reference rs140241383(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218108C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237148.1,