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rs1060499927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Familial Hypercholesterolemia
Chromosome19
Position11116894
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060499927
dbSNP (classic)rs1060499927
ClinGenrs1060499927
ebirs1060499927
HLIrs1060499927
Exacrs1060499927
Gnomadrs1060499927
Varsomers1060499927
LitVarrs1060499927
Maprs1060499927
PheGenIrs1060499927
Biobankrs1060499927
1000 genomesrs1060499927
hgdprs1060499927
ensemblrs1060499927
geneviewrs1060499927
scholarrs1060499927
googlers1060499927
pharmgkbrs1060499927
gwascentralrs1060499927
openSNPrs1060499927
23andMers1060499927
23andMe allrs1060499927
SNPshotrs1060499927
SNPdbers1060499927
MSV3drs1060499927
GWAS Ctlgrs1060499927
Max Magnitude5
ClinVar
Risk rs1060499927(T;T)
Alt rs1060499927(T;T)
Reference Rs1060499927(A;A)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227570A>T
CLNSRC
CLNACC RCV000455807.1,