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rs1060499572

From SNPedia

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


Make rs1060499572(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11105460
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060499572
dbSNP (old)rs1060499572
ClinGenrs1060499572
ebirs1060499572
HLIrs1060499572
Exacrs1060499572
Gnomadrs1060499572
Varsomers1060499572
LitVarrs1060499572
Maprs1060499572
PheGenIrs1060499572
Biobankrs1060499572
1000 genomesrs1060499572
hgdprs1060499572
ensemblrs1060499572
gopubmedrs1060499572
geneviewrs1060499572
scholarrs1060499572
googlers1060499572
pharmgkbrs1060499572
gwascentralrs1060499572
openSNPrs1060499572
23andMers1060499572
23andMe allrs1060499572
SNPshotrs1060499572
SNPdbers1060499572
MSV3drs1060499572
GWAS Ctlgrs1060499572
Max Magnitude5
ClinVar
Risk rs1060499572(-;-)
Alt rs1060499572(-;-)
Reference Rs1060499572(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216139delG
CLNSRC LDLR @ LOVD
CLNACC RCV000238378.2,