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rs1057516127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5 Familial Hypercholesterolemia
Make rs1057516127(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11123200
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516127
dbSNP (old)rs1057516127
ClinGenrs1057516127
ebirs1057516127
HLIrs1057516127
Exacrs1057516127
Gnomadrs1057516127
Varsomers1057516127
LitVarrs1057516127
Maprs1057516127
PheGenIrs1057516127
Biobankrs1057516127
1000 genomesrs1057516127
hgdprs1057516127
ensemblrs1057516127
gopubmedrs1057516127
geneviewrs1057516127
scholarrs1057516127
googlers1057516127
pharmgkbrs1057516127
gwascentralrs1057516127
openSNPrs1057516127
23andMers1057516127
23andMe allrs1057516127
SNPshotrs1057516127
SNPdbers1057516127
MSV3drs1057516127
GWAS Ctlgrs1057516127
Max Magnitude5
ClinVar
Risk rs1057516127(T;T)
Alt rs1057516127(T;T)
Reference Rs1057516127(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11233876G>T
CLNSRC
CLNACC RCV000408760.1,