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rs879254444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar


Make rs879254444(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11102713
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254444
dbSNP (classic)rs879254444
ClinGenrs879254444
ebirs879254444
HLIrs879254444
Exacrs879254444
Gnomadrs879254444
Varsomers879254444
LitVarrs879254444
Maprs879254444
PheGenIrs879254444
Biobankrs879254444
1000 genomesrs879254444
hgdprs879254444
ensemblrs879254444
geneviewrs879254444
scholarrs879254444
googlers879254444
pharmgkbrs879254444
gwascentralrs879254444
openSNPrs879254444
23andMers879254444
23andMe allrs879254444
SNPshotrs879254444
SNPdbers879254444
MSV3drs879254444
GWAS Ctlgrs879254444
Max Magnitude5
ClinVar
Risk rs879254444(A;A)
Alt rs879254444(A;A)
Reference Rs879254444(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213389C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237930.1,