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rs875989893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Familial Hypercholesterolemia
Make rs875989893(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102726
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989893
dbSNP (classic)rs875989893
ClinGenrs875989893
ebirs875989893
HLIrs875989893
Exacrs875989893
Gnomadrs875989893
Varsomers875989893
LitVarrs875989893
Maprs875989893
PheGenIrs875989893
Biobankrs875989893
1000 genomesrs875989893
hgdprs875989893
ensemblrs875989893
geneviewrs875989893
scholarrs875989893
googlers875989893
pharmgkbrs875989893
gwascentralrs875989893
openSNPrs875989893
23andMers875989893
SNPshotrs875989893
SNPdbers875989893
MSV3drs875989893
GWAS Ctlgrs875989893
Max Magnitude5
ClinVar
Risk rs875989893(T;T)
Alt rs875989893(T;T)
Reference Rs875989893(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213402C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000211675.2,