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rs875989889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GT) 5 Familial Hypercholesterolemia
(GT;GT) 0 common/normal
(TG;TG) 0 common in clinvar


Make rs875989889(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102669
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989889
dbSNP (classic)rs875989889
ClinGenrs875989889
ebirs875989889
HLIrs875989889
Exacrs875989889
Gnomadrs875989889
Varsomers875989889
LitVarrs875989889
Maprs875989889
PheGenIrs875989889
Biobankrs875989889
1000 genomesrs875989889
hgdprs875989889
ensemblrs875989889
geneviewrs875989889
scholarrs875989889
googlers875989889
pharmgkbrs875989889
gwascentralrs875989889
openSNPrs875989889
23andMers875989889
SNPshotrs875989889
SNPdbers875989889
MSV3drs875989889
GWAS Ctlgrs875989889
Max Magnitude5
ClinVar
Risk rs875989889(-;-)
Alt rs875989889(-;-)
Reference Rs875989889(TG;TG)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213345_11213346delGT
CLNSRC LDLR @ LOVD
CLNACC RCV000211570.2,