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rs879254789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Familial Hypercholesterolemia
Make rs879254789(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11111549
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254789
dbSNP (classic)rs879254789
ClinGenrs879254789
ebirs879254789
HLIrs879254789
Exacrs879254789
Gnomadrs879254789
Varsomers879254789
LitVarrs879254789
Maprs879254789
PheGenIrs879254789
Biobankrs879254789
1000 genomesrs879254789
hgdprs879254789
ensemblrs879254789
geneviewrs879254789
scholarrs879254789
googlers879254789
pharmgkbrs879254789
gwascentralrs879254789
openSNPrs879254789
23andMers879254789
SNPshotrs879254789
SNPdbers879254789
MSV3drs879254789
GWAS Ctlgrs879254789
Max Magnitude5
ClinVar
Risk rs879254789(T;T)
Alt rs879254789(T;T)
Reference Rs879254789(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222225C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238054.1,