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rs1057519672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar
Chromosome19
Position11113654
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1057519672
dbSNP (classic)rs1057519672
ClinGenrs1057519672
ebirs1057519672
HLIrs1057519672
Exacrs1057519672
Gnomadrs1057519672
Varsomers1057519672
LitVarrs1057519672
Maprs1057519672
PheGenIrs1057519672
Biobankrs1057519672
1000 genomesrs1057519672
hgdprs1057519672
ensemblrs1057519672
geneviewrs1057519672
scholarrs1057519672
googlers1057519672
pharmgkbrs1057519672
gwascentralrs1057519672
openSNPrs1057519672
23andMers1057519672
23andMe allrs1057519672
SNPshotrs1057519672
SNPdbers1057519672
MSV3drs1057519672
GWAS Ctlgrs1057519672
Max Magnitude5
ClinVar
Risk rs1057519672(-;-)
Alt rs1057519672(-;-)
Reference Rs1057519672(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224330delC
CLNSRC
CLNACC RCV000417246.1,