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rs730882096

From SNPedia

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


Make rs730882096(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11110738
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882096
dbSNP (classic)rs730882096
ClinGenrs730882096
ebirs730882096
HLIrs730882096
Exacrs730882096
Gnomadrs730882096
Varsomers730882096
LitVarrs730882096
Maprs730882096
PheGenIrs730882096
Biobankrs730882096
1000 genomesrs730882096
hgdprs730882096
ensemblrs730882096
geneviewrs730882096
scholarrs730882096
googlers730882096
pharmgkbrs730882096
gwascentralrs730882096
openSNPrs730882096
23andMers730882096
SNPshotrs730882096
SNPdbers730882096
MSV3drs730882096
GWAS Ctlgrs730882096
Max Magnitude5
ClinVar
Risk rs730882096(A;A) rs730882096(T;T)
Alt rs730882096(A;A) rs730882096(T;T)
Reference Rs730882096(G;G)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221414G>A; NC_000019.9:g.11221414G>T
CLNSRC LDLR @ LOVD UniProtKB (protein)
CLNACC RCV000161977.1, RCV000211596.4, RCV000237974.1,