Have questions? Visit https://www.reddit.com/r/SNPedia

rs5933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Familial Hypercholesterolemia
Make rs5933(C;T)
Make rs5933(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113414
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs5933
dbSNP (classic)rs5933
ClinGenrs5933
ebirs5933
HLIrs5933
Exacrs5933
Gnomadrs5933
Varsomers5933
LitVarrs5933
Maprs5933
PheGenIrs5933
Biobankrs5933
1000 genomesrs5933
hgdprs5933
ensemblrs5933
geneviewrs5933
scholarrs5933
googlers5933
pharmgkbrs5933
gwascentralrs5933
openSNPrs5933
23andMers5933
SNPshotrs5933
SNPdbers5933
MSV3drs5933
GWAS Ctlgrs5933
Max Magnitude5
ClinVar
Risk rs5933(G;G) rs5933(T;T)
Alt rs5933(G;G) rs5933(T;T)
Reference Rs5933(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224090C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238156.1,