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rs138947766

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138947766(A;A)
Make rs138947766(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116883
GeneLDLR
is asnp
is mentioned by
dbSNPrs138947766
ebirs138947766
HLIrs138947766
Exacrs138947766
Varsomers138947766
Maprs138947766
PheGenIrs138947766
hapmaprs138947766
1000 genomesrs138947766
hgdprs138947766
ensemblrs138947766
gopubmedrs138947766
geneviewrs138947766
scholarrs138947766
googlers138947766
pharmgkbrs138947766
gwascentralrs138947766
openSNPrs138947766
23andMers138947766
23andMe allrs138947766
SNP Nexus

SNPshotrs138947766
SNPdbers138947766
MSV3drs138947766
GWAS Ctlgrs138947766
Max Magnitude0
ClinVar
Risk rs138947766(A,C;A,C)
Alt rs138947766(A,C;A,C)
Reference rs138947766(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227559G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238353.1,