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rs879254636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Familial Hypercholesterolemia
Make rs879254636(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105583
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254636
dbSNP (classic)rs879254636
ClinGenrs879254636
ebirs879254636
HLIrs879254636
Exacrs879254636
Gnomadrs879254636
Varsomers879254636
LitVarrs879254636
Maprs879254636
PheGenIrs879254636
Biobankrs879254636
1000 genomesrs879254636
hgdprs879254636
ensemblrs879254636
geneviewrs879254636
scholarrs879254636
googlers879254636
pharmgkbrs879254636
gwascentralrs879254636
openSNPrs879254636
23andMers879254636
23andMe allrs879254636
SNPshotrs879254636
SNPdbers879254636
MSV3drs879254636
GWAS Ctlgrs879254636
Max Magnitude5
ClinVar
Risk rs879254636(A;A) rs879254636(G;G)
Alt rs879254636(A;A) rs879254636(G;G)
Reference Rs879254636(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216259C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237689.1,