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

rs374045590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374045590(C;G)
Make rs374045590(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position11129598
GeneLDLR
is asnp
is mentioned by
dbSNPrs374045590
ebirs374045590
HLIrs374045590
Exacrs374045590
Varsomers374045590
Maprs374045590
PheGenIrs374045590
hapmaprs374045590
1000 genomesrs374045590
hgdprs374045590
ensemblrs374045590
gopubmedrs374045590
geneviewrs374045590
scholarrs374045590
googlers374045590
pharmgkbrs374045590
gwascentralrs374045590
openSNPrs374045590
23andMers374045590
23andMe allrs374045590
SNP Nexus

SNPshotrs374045590
SNPdbers374045590
MSV3drs374045590
GWAS Ctlgrs374045590
Max Magnitude0
ClinVar
Risk rs374045590(A,G;A,G)
Alt rs374045590(A,G;A,G)
Reference rs374045590(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia Hypercholesterolaemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11240274C>A; NC_000019.9:g.11240274C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238314.1, RCV000148570.1, RCV000237920.1,