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rs1060500988

From SNPedia

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


Make rs1060500988(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11120383
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060500988
dbSNP (old)rs1060500988
ClinGenrs1060500988
ebirs1060500988
HLIrs1060500988
Exacrs1060500988
Gnomadrs1060500988
Varsomers1060500988
Maprs1060500988
PheGenIrs1060500988
Biobankrs1060500988
1000 genomesrs1060500988
hgdprs1060500988
ensemblrs1060500988
gopubmedrs1060500988
geneviewrs1060500988
scholarrs1060500988
googlers1060500988
pharmgkbrs1060500988
gwascentralrs1060500988
openSNPrs1060500988
23andMers1060500988
23andMe allrs1060500988
SNPshotrs1060500988
SNPdbers1060500988
MSV3drs1060500988
GWAS Ctlgrs1060500988
Max Magnitude5
ClinVar
Risk rs1060500988(-;-)
Alt rs1060500988(-;-)
Reference Rs1060500988(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231059delT
CLNSRC
CLNACC RCV000471150.1,