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rs746982741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Familial Hypercholesterolemia
(A;G) 5 Familial Hypercholesterolemia
Make rs746982741(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11111550
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs746982741
dbSNP (classic)rs746982741
ClinGenrs746982741
ebirs746982741
HLIrs746982741
Exacrs746982741
Gnomadrs746982741
Varsomers746982741
LitVarrs746982741
Maprs746982741
PheGenIrs746982741
Biobankrs746982741
1000 genomesrs746982741
hgdprs746982741
ensemblrs746982741
geneviewrs746982741
scholarrs746982741
googlers746982741
pharmgkbrs746982741
gwascentralrs746982741
openSNPrs746982741
23andMers746982741
SNPshotrs746982741
SNPdbers746982741
MSV3drs746982741
GWAS Ctlgrs746982741
Max Magnitude5
ClinVar
Risk rs746982741(C;C) rs746982741(G;G)
Alt rs746982741(C;C) rs746982741(G;G)
Reference Rs746982741(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222226A>C; NC_000019.9:g.11222226A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238412.1, RCV000237564.1,