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rs879254769

From SNPedia

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


Make rs879254769(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11110765
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254769
dbSNP (classic)rs879254769
ClinGenrs879254769
ebirs879254769
HLIrs879254769
Exacrs879254769
Gnomadrs879254769
Varsomers879254769
LitVarrs879254769
Maprs879254769
PheGenIrs879254769
Biobankrs879254769
1000 genomesrs879254769
hgdprs879254769
ensemblrs879254769
geneviewrs879254769
scholarrs879254769
googlers879254769
pharmgkbrs879254769
gwascentralrs879254769
openSNPrs879254769
23andMers879254769
23andMe allrs879254769
SNPshotrs879254769
SNPdbers879254769
MSV3drs879254769
GWAS Ctlgrs879254769
Max Magnitude5
ClinVar
Risk rs879254769(A;A) rs879254769(C;C)
Alt rs879254769(A;A) rs879254769(C;C)
Reference Rs879254769(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221441T>A; NC_000019.9:g.11221441T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237443.2, RCV000238007.1,