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rs1057519667

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


Make rs1057519667(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11113278
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1057519667
dbSNP (old)rs1057519667
ClinGenrs1057519667
ebirs1057519667
HLIrs1057519667
Exacrs1057519667
Gnomadrs1057519667
Varsomers1057519667
Maprs1057519667
PheGenIrs1057519667
Biobankrs1057519667
1000 genomesrs1057519667
hgdprs1057519667
ensemblrs1057519667
gopubmedrs1057519667
geneviewrs1057519667
scholarrs1057519667
googlers1057519667
pharmgkbrs1057519667
gwascentralrs1057519667
openSNPrs1057519667
23andMers1057519667
23andMe allrs1057519667
SNPshotrs1057519667
SNPdbers1057519667
MSV3drs1057519667
GWAS Ctlgrs1057519667
Max Magnitude5
ClinVar
Risk rs1057519667(-;-)
Alt rs1057519667(-;-)
Reference Rs1057519667(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11223954delG
CLNSRC
CLNACC RCV000417253.1,