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rs193922566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922566(A;A)
Make rs193922566(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11110766
GeneLDLR
is asnp
is mentioned by
dbSNPrs193922566
ebirs193922566
HLIrs193922566
Exacrs193922566
Varsomers193922566
Maprs193922566
PheGenIrs193922566
hapmaprs193922566
1000 genomesrs193922566
hgdprs193922566
ensemblrs193922566
gopubmedrs193922566
geneviewrs193922566
scholarrs193922566
googlers193922566
pharmgkbrs193922566
gwascentralrs193922566
openSNPrs193922566
23andMers193922566
23andMe allrs193922566
SNP Nexus

SNPshotrs193922566
SNPdbers193922566
MSV3drs193922566
GWAS Ctlgrs193922566
Max Magnitude0
ClinVar
Risk rs193922566(A;A)
Alt rs193922566(A;A)
Reference rs193922566(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221442G>A; NC_000019.9:g.11221442G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000030122.2, RCV000237312.1,


[PMID 19026292] Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.