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rs141155833

From SNPedia

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


Make rs141155833(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11120114
GeneLDLR
is asnp
is mentioned by
dbSNPrs141155833
dbSNP (old)rs141155833
ClinGenrs141155833
ebirs141155833
HLIrs141155833
Exacrs141155833
Gnomadrs141155833
Varsomers141155833
Maprs141155833
PheGenIrs141155833
Biobankrs141155833
1000 genomesrs141155833
hgdprs141155833
ensemblrs141155833
gopubmedrs141155833
geneviewrs141155833
scholarrs141155833
googlers141155833
pharmgkbrs141155833
gwascentralrs141155833
openSNPrs141155833
23andMers141155833
23andMe allrs141155833
SNPshotrs141155833
SNPdbers141155833
MSV3drs141155833
GWAS Ctlgrs141155833
Max Magnitude5
ClinVar
Risk rs141155833(C;C)
Alt rs141155833(C;C)
Reference Rs141155833(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230790T>C
CLNSRC The University of Western Ontario
CLNACC RCV000408811.1,