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rs193922569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922569(C;T)
Make rs193922569(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11120224
GeneLDLR
is asnp
is mentioned by
dbSNPrs193922569
ebirs193922569
HLIrs193922569
Exacrs193922569
Varsomers193922569
Maprs193922569
PheGenIrs193922569
hapmaprs193922569
1000 genomesrs193922569
hgdprs193922569
ensemblrs193922569
gopubmedrs193922569
geneviewrs193922569
scholarrs193922569
googlers193922569
pharmgkbrs193922569
gwascentralrs193922569
openSNPrs193922569
23andMers193922569
23andMe allrs193922569
SNP Nexus

SNPshotrs193922569
SNPdbers193922569
MSV3drs193922569
GWAS Ctlgrs193922569
Max Magnitude0
ClinVar
Risk rs193922569(T;T)
Alt rs193922569(T;T)
Reference rs193922569(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230900C>A; NC_000019.9:g.11230900C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238331.1, RCV000030130.1,