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rs875989935

From SNPedia

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


Make rs875989935(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120200
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989935
dbSNP (classic)rs875989935
ClinGenrs875989935
ebirs875989935
HLIrs875989935
Exacrs875989935
Gnomadrs875989935
Varsomers875989935
LitVarrs875989935
Maprs875989935
PheGenIrs875989935
Biobankrs875989935
1000 genomesrs875989935
hgdprs875989935
ensemblrs875989935
geneviewrs875989935
scholarrs875989935
googlers875989935
pharmgkbrs875989935
gwascentralrs875989935
openSNPrs875989935
23andMers875989935
SNPshotrs875989935
SNPdbers875989935
MSV3drs875989935
GWAS Ctlgrs875989935
Max Magnitude5
ClinVar
Risk rs875989935(-;-)
Alt rs875989935(-;-)
Reference Rs875989935(AT;AT)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230876_11230877delAT
CLNSRC LDLR @ LOVD
CLNACC RCV000211682.2,