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rs1060499933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar
Chromosome19
Position11110692
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060499933
dbSNP (old)rs1060499933
ClinGenrs1060499933
ebirs1060499933
HLIrs1060499933
Exacrs1060499933
Gnomadrs1060499933
Varsomers1060499933
Maprs1060499933
PheGenIrs1060499933
Biobankrs1060499933
1000 genomesrs1060499933
hgdprs1060499933
ensemblrs1060499933
gopubmedrs1060499933
geneviewrs1060499933
scholarrs1060499933
googlers1060499933
pharmgkbrs1060499933
gwascentralrs1060499933
openSNPrs1060499933
23andMers1060499933
23andMe allrs1060499933
SNPshotrs1060499933
SNPdbers1060499933
MSV3drs1060499933
GWAS Ctlgrs1060499933
Max Magnitude5
ClinVar
Risk rs1060499933(A;A)
Alt rs1060499933(A;A)
Reference Rs1060499933(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221368C>A
CLNSRC
CLNACC RCV000455675.1,