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rs1057519661

From SNPedia

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


Make rs1057519661(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11105587
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519661
dbSNP (old)rs1057519661
ClinGenrs1057519661
ebirs1057519661
HLIrs1057519661
Exacrs1057519661
Gnomadrs1057519661
Varsomers1057519661
LitVarrs1057519661
Maprs1057519661
PheGenIrs1057519661
Biobankrs1057519661
1000 genomesrs1057519661
hgdprs1057519661
ensemblrs1057519661
gopubmedrs1057519661
geneviewrs1057519661
scholarrs1057519661
googlers1057519661
pharmgkbrs1057519661
gwascentralrs1057519661
openSNPrs1057519661
23andMers1057519661
23andMe allrs1057519661
SNPshotrs1057519661
SNPdbers1057519661
MSV3drs1057519661
GWAS Ctlgrs1057519661
Max Magnitude5
ClinVar
Risk rs1057519661(-;-)
Alt rs1057519661(-;-)
Reference Rs1057519661(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216263delC
CLNSRC
CLNACC RCV000417305.1,