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rs879254965

From SNPedia

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


Make rs879254965(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116140
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254965
dbSNP (classic)rs879254965
ClinGenrs879254965
ebirs879254965
HLIrs879254965
Exacrs879254965
Gnomadrs879254965
Varsomers879254965
LitVarrs879254965
Maprs879254965
PheGenIrs879254965
Biobankrs879254965
1000 genomesrs879254965
hgdprs879254965
ensemblrs879254965
geneviewrs879254965
scholarrs879254965
googlers879254965
pharmgkbrs879254965
gwascentralrs879254965
openSNPrs879254965
23andMers879254965
23andMe allrs879254965
SNPshotrs879254965
SNPdbers879254965
MSV3drs879254965
GWAS Ctlgrs879254965
Max Magnitude5
ClinVar
Risk rs879254965(A;A) rs879254965(C;C) rs879254965(T;T)
Alt rs879254965(A;A) rs879254965(C;C) rs879254965(T;T)
Reference Rs879254965(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226816G>A; NC_000019.9:g.11226816G>C; NC_000019.9:g.11226816G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238474.1, RCV000237535.1, RCV000238084.2,