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rs13306512

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs13306512(C;G)
Make rs13306512(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107513
GeneLDLR
is asnp
is mentioned by
dbSNPrs13306512
ebirs13306512
HLIrs13306512
Exacrs13306512
Varsomers13306512
Maprs13306512
PheGenIrs13306512
hapmaprs13306512
1000 genomesrs13306512
hgdprs13306512
ensemblrs13306512
gopubmedrs13306512
geneviewrs13306512
scholarrs13306512
googlers13306512
pharmgkbrs13306512
gwascentralrs13306512
openSNPrs13306512
23andMers13306512
23andMe allrs13306512
SNP Nexus

SNPshotrs13306512
SNPdbers13306512
MSV3drs13306512
GWAS Ctlgrs13306512
Max Magnitude0
ClinVar
Risk rs13306512(G,T;G,T)
Alt rs13306512(G,T;G,T)
Reference rs13306512(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218189C>A; NC_000019.9:g.11218189C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237235.1, RCV000237523.1,