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rs753248521

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs753248521(A;G)
Make rs753248521(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11111523
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs753248521
ebirs753248521
HLIrs753248521
Exacrs753248521
Varsomers753248521
Maprs753248521
PheGenIrs753248521
hapmaprs753248521
1000 genomesrs753248521
hgdprs753248521
ensemblrs753248521
gopubmedrs753248521
geneviewrs753248521
scholarrs753248521
googlers753248521
pharmgkbrs753248521
gwascentralrs753248521
openSNPrs753248521
23andMers753248521
23andMe allrs753248521
SNP Nexus

SNPshotrs753248521
SNPdbers753248521
MSV3drs753248521
GWAS Ctlgrs753248521
Max Magnitude0
ClinVar
Risk rs753248521(G;G)
Alt rs753248521(G;G)
Reference rs753248521(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222199A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238289.1,