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rs879255041

From SNPedia

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


Make rs879255041(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116986
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255041
dbSNP (classic)rs879255041
ClinGenrs879255041
ebirs879255041
HLIrs879255041
Exacrs879255041
Gnomadrs879255041
Varsomers879255041
LitVarrs879255041
Maprs879255041
PheGenIrs879255041
Biobankrs879255041
1000 genomesrs879255041
hgdprs879255041
ensemblrs879255041
geneviewrs879255041
scholarrs879255041
googlers879255041
pharmgkbrs879255041
gwascentralrs879255041
openSNPrs879255041
23andMers879255041
23andMe allrs879255041
SNPshotrs879255041
SNPdbers879255041
MSV3drs879255041
GWAS Ctlgrs879255041
Max Magnitude5
ClinVar
Risk rs879255041(C;C) rs879255041(T;T)
Alt rs879255041(C;C) rs879255041(T;T)
Reference Rs879255041(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227662G>C; NC_000019.9:g.11227662G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237347.2, RCV000237875.1,