Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922570(C;C)
Make rs193922570(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11120495
GeneLDLR
is asnp
is mentioned by
dbSNPrs193922570
ebirs193922570
HLIrs193922570
Exacrs193922570
Varsomers193922570
Maprs193922570
PheGenIrs193922570
hapmaprs193922570
1000 genomesrs193922570
hgdprs193922570
ensemblrs193922570
gopubmedrs193922570
geneviewrs193922570
scholarrs193922570
googlers193922570
pharmgkbrs193922570
gwascentralrs193922570
openSNPrs193922570
23andMers193922570
23andMe allrs193922570
SNP Nexus

SNPshotrs193922570
SNPdbers193922570
MSV3drs193922570
GWAS Ctlgrs193922570
Max Magnitude0
ClinVar
Risk rs193922570(C,T;C,T)
Alt rs193922570(C,T;C,T)
Reference rs193922570(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231171G>C; NC_000019.9:g.11231171G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000030132.2, RCV000237628.1,


[PMID 18325082] Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.


[PMID 20506408] Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.


[PMID 21382890] Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.


[PMID 21642693] Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.