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rs199570811

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199570811(A;A)
Make rs199570811(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102734
GeneLDLR
is asnp
is mentioned by
dbSNPrs199570811
ebirs199570811
HLIrs199570811
Exacrs199570811
Varsomers199570811
Maprs199570811
PheGenIrs199570811
hapmaprs199570811
1000 genomesrs199570811
hgdprs199570811
ensemblrs199570811
gopubmedrs199570811
geneviewrs199570811
scholarrs199570811
googlers199570811
pharmgkbrs199570811
gwascentralrs199570811
openSNPrs199570811
23andMers199570811
23andMe allrs199570811
SNP Nexus

SNPshotrs199570811
SNPdbers199570811
MSV3drs199570811
GWAS Ctlgrs199570811
Max Magnitude0
ClinVar
Risk rs199570811(A;A)
Alt rs199570811(A;A)
Reference rs199570811(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213410G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238280.1,