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rs879254703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Make rs879254703(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11107454
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254703
dbSNP (classic)rs879254703
ClinGenrs879254703
ebirs879254703
HLIrs879254703
Exacrs879254703
Gnomadrs879254703
Varsomers879254703
LitVarrs879254703
Maprs879254703
PheGenIrs879254703
Biobankrs879254703
1000 genomesrs879254703
hgdprs879254703
ensemblrs879254703
geneviewrs879254703
scholarrs879254703
googlers879254703
pharmgkbrs879254703
gwascentralrs879254703
openSNPrs879254703
23andMers879254703
23andMe allrs879254703
SNPshotrs879254703
SNPdbers879254703
MSV3drs879254703
GWAS Ctlgrs879254703
Max Magnitude5
ClinVar
Risk rs879254703(G;G)
Alt rs879254703(G;G)
Reference Rs879254703(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218130A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237605.1,