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rs879254364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Familial Hypercholesterolemia
Make rs879254364(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11089393
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254364
dbSNP (classic)rs879254364
ClinGenrs879254364
ebirs879254364
HLIrs879254364
Exacrs879254364
Gnomadrs879254364
Varsomers879254364
LitVarrs879254364
Maprs879254364
PheGenIrs879254364
Biobankrs879254364
1000 genomesrs879254364
hgdprs879254364
ensemblrs879254364
geneviewrs879254364
scholarrs879254364
googlers879254364
pharmgkbrs879254364
gwascentralrs879254364
openSNPrs879254364
23andMers879254364
23andMe allrs879254364
SNPshotrs879254364
SNPdbers879254364
MSV3drs879254364
GWAS Ctlgrs879254364
Max Magnitude5
ClinVar
Risk rs879254364(T;T)
Alt rs879254364(T;T)
Reference Rs879254364(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200069C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237296.1,