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

rs879254697

From SNPedia

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


Make rs879254697(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11107439
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254697
dbSNP (classic)rs879254697
ClinGenrs879254697
ebirs879254697
HLIrs879254697
Exacrs879254697
Gnomadrs879254697
Varsomers879254697
LitVarrs879254697
Maprs879254697
PheGenIrs879254697
Biobankrs879254697
1000 genomesrs879254697
hgdprs879254697
ensemblrs879254697
geneviewrs879254697
scholarrs879254697
googlers879254697
pharmgkbrs879254697
gwascentralrs879254697
openSNPrs879254697
23andMers879254697
23andMe allrs879254697
SNPshotrs879254697
SNPdbers879254697
MSV3drs879254697
GWAS Ctlgrs879254697
Max Magnitude5
ClinVar
Risk rs879254697(C;C)
Alt rs879254697(C;C)
Reference Rs879254697(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11218115T>C; NC_000019.9:g.11218115T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237446.1, RCV000493555.1,