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rs1057516131

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


Make rs1057516131(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11120157
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516131
dbSNP (old)rs1057516131
ClinGenrs1057516131
ebirs1057516131
HLIrs1057516131
Exacrs1057516131
Gnomadrs1057516131
Varsomers1057516131
Maprs1057516131
PheGenIrs1057516131
Biobankrs1057516131
1000 genomesrs1057516131
hgdprs1057516131
ensemblrs1057516131
gopubmedrs1057516131
geneviewrs1057516131
scholarrs1057516131
googlers1057516131
pharmgkbrs1057516131
gwascentralrs1057516131
openSNPrs1057516131
23andMers1057516131
23andMe allrs1057516131
SNPshotrs1057516131
SNPdbers1057516131
MSV3drs1057516131
GWAS Ctlgrs1057516131
Max Magnitude5
ClinVar
Risk rs1057516131(-;-)
Alt rs1057516131(-;-)
Reference Rs1057516131(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230833delC
CLNSRC
CLNACC RCV000408859.1,