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

rs879254708

From SNPedia

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


Make rs879254708(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11107462
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254708
dbSNP (classic)rs879254708
ClinGenrs879254708
ebirs879254708
HLIrs879254708
Exacrs879254708
Gnomadrs879254708
Varsomers879254708
LitVarrs879254708
Maprs879254708
PheGenIrs879254708
Biobankrs879254708
1000 genomesrs879254708
hgdprs879254708
ensemblrs879254708
geneviewrs879254708
scholarrs879254708
googlers879254708
pharmgkbrs879254708
gwascentralrs879254708
openSNPrs879254708
23andMers879254708
SNPshotrs879254708
SNPdbers879254708
MSV3drs879254708
GWAS Ctlgrs879254708
Max Magnitude5
ClinVar
Risk rs879254708(A;A)
Alt rs879254708(A;A)
Reference Rs879254708(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218138C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237489.1,