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rs1057516128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Make rs1057516128(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11113584
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1057516128
dbSNP (classic)rs1057516128
ClinGenrs1057516128
ebirs1057516128
HLIrs1057516128
Exacrs1057516128
Gnomadrs1057516128
Varsomers1057516128
LitVarrs1057516128
Maprs1057516128
PheGenIrs1057516128
Biobankrs1057516128
1000 genomesrs1057516128
hgdprs1057516128
ensemblrs1057516128
geneviewrs1057516128
scholarrs1057516128
googlers1057516128
pharmgkbrs1057516128
gwascentralrs1057516128
openSNPrs1057516128
23andMers1057516128
23andMe allrs1057516128
SNPshotrs1057516128
SNPdbers1057516128
MSV3drs1057516128
GWAS Ctlgrs1057516128
Max Magnitude5
ClinVar
Risk rs1057516128(G;G)
Alt rs1057516128(G;G)
Reference Rs1057516128(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224260A>G
CLNSRC
CLNACC RCV000408875.1,