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rs1060499931

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome19
Position11105416
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060499931
dbSNP (old)rs1060499931
ClinGenrs1060499931
ebirs1060499931
HLIrs1060499931
Exacrs1060499931
Gnomadrs1060499931
Varsomers1060499931
Maprs1060499931
PheGenIrs1060499931
Biobankrs1060499931
1000 genomesrs1060499931
hgdprs1060499931
ensemblrs1060499931
gopubmedrs1060499931
geneviewrs1060499931
scholarrs1060499931
googlers1060499931
pharmgkbrs1060499931
gwascentralrs1060499931
openSNPrs1060499931
23andMers1060499931
23andMe allrs1060499931
SNPshotrs1060499931
SNPdbers1060499931
MSV3drs1060499931
GWAS Ctlgrs1060499931
Max Magnitude0
ClinVar
Risk rs1060499931(A;A)
Alt rs1060499931(A;A)
Reference Rs1060499931(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216092C>A
CLNSRC
CLNACC RCV000455904.1,