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rs879254357

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs879254357(-;-)
Make rs879254357(-;GATGGT)
Make rs879254357(GATGGT;GATGGT)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105560
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254357
ebirs879254357
HLIrs879254357
Exacrs879254357
Varsomers879254357
Maprs879254357
PheGenIrs879254357
hapmaprs879254357
1000 genomesrs879254357
hgdprs879254357
ensemblrs879254357
gopubmedrs879254357
geneviewrs879254357
scholarrs879254357
googlers879254357
pharmgkbrs879254357
gwascentralrs879254357
openSNPrs879254357
23andMers879254357
23andMe allrs879254357
SNP Nexus

SNPshotrs879254357
SNPdbers879254357
MSV3drs879254357
GWAS Ctlgrs879254357
Max Magnitude0
ClinVar
Risk rs879254357(GTGATG;GTGATG)
Alt rs879254357(GTGATG;GTGATG)
Reference rs879254357(;)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216231_11216236dupGATGGT
CLNSRC LDLR @ LOVD
CLNACC RCV000238362.1,