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rs875989930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common/normal


Make rs875989930(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11116898
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989930
dbSNP (classic)rs875989930
ClinGenrs875989930
ebirs875989930
HLIrs875989930
Exacrs875989930
Gnomadrs875989930
Varsomers875989930
LitVarrs875989930
Maprs875989930
PheGenIrs875989930
Biobankrs875989930
1000 genomesrs875989930
hgdprs875989930
ensemblrs875989930
geneviewrs875989930
scholarrs875989930
googlers875989930
pharmgkbrs875989930
gwascentralrs875989930
openSNPrs875989930
23andMers875989930
SNPshotrs875989930
SNPdbers875989930
MSV3drs875989930
GWAS Ctlgrs875989930
Max Magnitude5
ClinVar
Risk rs875989930(C;C)
Alt rs875989930(C;C)
Reference Rs875989930(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227574T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000211698.3,