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rs875989941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 5 Familial Hypercholesterolemia
(A;A) 0 common in clinvar


Make rs875989941(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11123325
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989941
dbSNP (classic)rs875989941
ClinGenrs875989941
ebirs875989941
HLIrs875989941
Exacrs875989941
Gnomadrs875989941
Varsomers875989941
LitVarrs875989941
Maprs875989941
PheGenIrs875989941
Biobankrs875989941
1000 genomesrs875989941
hgdprs875989941
ensemblrs875989941
geneviewrs875989941
scholarrs875989941
googlers875989941
pharmgkbrs875989941
gwascentralrs875989941
openSNPrs875989941
23andMers875989941
SNPshotrs875989941
SNPdbers875989941
MSV3drs875989941
GWAS Ctlgrs875989941
Max Magnitude5
ClinVar
Risk rs875989941(-;-)
Alt rs875989941(-;-)
Reference Rs875989941(A;A)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11234001delA
CLNSRC LDLR @ LOVD
CLNACC RCV000211606.2,