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rs879254635

From SNPedia

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


Make rs879254635(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105582
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254635
dbSNP (classic)rs879254635
ClinGenrs879254635
ebirs879254635
HLIrs879254635
Exacrs879254635
Gnomadrs879254635
Varsomers879254635
LitVarrs879254635
Maprs879254635
PheGenIrs879254635
Biobankrs879254635
1000 genomesrs879254635
hgdprs879254635
ensemblrs879254635
geneviewrs879254635
scholarrs879254635
googlers879254635
pharmgkbrs879254635
gwascentralrs879254635
openSNPrs879254635
23andMers879254635
23andMe allrs879254635
SNPshotrs879254635
SNPdbers879254635
MSV3drs879254635
GWAS Ctlgrs879254635
Max Magnitude5
ClinVar
Risk rs879254635(C;C)
Alt rs879254635(C;C)
Reference Rs879254635(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216258T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237302.1,