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rs759858813

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759858813(C;G)
Make rs759858813(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120482
GeneLDLR
is asnp
is mentioned by
dbSNPrs759858813
ebirs759858813
HLIrs759858813
Exacrs759858813
Varsomers759858813
Maprs759858813
PheGenIrs759858813
hapmaprs759858813
1000 genomesrs759858813
hgdprs759858813
ensemblrs759858813
gopubmedrs759858813
geneviewrs759858813
scholarrs759858813
googlers759858813
pharmgkbrs759858813
gwascentralrs759858813
openSNPrs759858813
23andMers759858813
23andMe allrs759858813
SNP Nexus

SNPshotrs759858813
SNPdbers759858813
MSV3drs759858813
GWAS Ctlgrs759858813
Max Magnitude0
ClinVar
Risk rs759858813(G,T;G,T)
Alt rs759858813(G,T;G,T)
Reference rs759858813(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231158C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237946.1,