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rs139400379

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139400379(C;T)
Make rs139400379(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102758
GeneLDLR
is asnp
is mentioned by
dbSNPrs139400379
ebirs139400379
HLIrs139400379
Exacrs139400379
Varsomers139400379
Maprs139400379
PheGenIrs139400379
hapmaprs139400379
1000 genomesrs139400379
hgdprs139400379
ensemblrs139400379
gopubmedrs139400379
geneviewrs139400379
scholarrs139400379
googlers139400379
pharmgkbrs139400379
gwascentralrs139400379
openSNPrs139400379
23andMers139400379
23andMe allrs139400379
SNP Nexus

SNPshotrs139400379
SNPdbers139400379
MSV3drs139400379
GWAS Ctlgrs139400379
Max Magnitude0
ClinVar
Risk rs139400379(A,T;A,T)
Alt rs139400379(A,T;A,T)
Reference rs139400379(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213434C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238158.1,