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rs748554592

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs748554592(G;G)
Make rs748554592(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113332
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs748554592
ebirs748554592
HLIrs748554592
Exacrs748554592
Varsomers748554592
Maprs748554592
PheGenIrs748554592
hapmaprs748554592
1000 genomesrs748554592
hgdprs748554592
ensemblrs748554592
gopubmedrs748554592
geneviewrs748554592
scholarrs748554592
googlers748554592
pharmgkbrs748554592
gwascentralrs748554592
openSNPrs748554592
23andMers748554592
23andMe allrs748554592
SNP Nexus

SNPshotrs748554592
SNPdbers748554592
MSV3drs748554592
GWAS Ctlgrs748554592
Max Magnitude0
ClinVar
Risk rs748554592(G;G)
Alt rs748554592(G;G)
Reference rs748554592(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224008T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238583.1,