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rs138315511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138315511(A;C)
Make rs138315511(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position11111538
GeneLDLR
is asnp
is mentioned by
dbSNPrs138315511
ebirs138315511
HLIrs138315511
Exacrs138315511
Varsomers138315511
Maprs138315511
PheGenIrs138315511
hapmaprs138315511
1000 genomesrs138315511
hgdprs138315511
ensemblrs138315511
gopubmedrs138315511
geneviewrs138315511
scholarrs138315511
googlers138315511
pharmgkbrs138315511
gwascentralrs138315511
openSNPrs138315511
23andMers138315511
23andMe allrs138315511
SNP Nexus

SNPshotrs138315511
SNPdbers138315511
MSV3drs138315511
GWAS Ctlgrs138315511
Max Magnitude0
ClinVar
Risk rs138315511(C,T;C,T)
Alt rs138315511(C,T;C,T)
Reference rs138315511(A;A)
Significance Other
Disease Familial hypercholesterolemia Hypercholesterolaemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11222214A>C
CLNSRC LDLR @ LOVD
CLNACC RCV000030124.2, RCV000148563.1,


[PMID 15823288] The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.


[PMID 16542394] Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.