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rs369943481

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs369943481(C;T)
Make rs369943481(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120454
GeneLDLR
is asnp
is mentioned by
dbSNPrs369943481
ebirs369943481
HLIrs369943481
Exacrs369943481
Varsomers369943481
Maprs369943481
PheGenIrs369943481
hapmaprs369943481
1000 genomesrs369943481
hgdprs369943481
ensemblrs369943481
gopubmedrs369943481
geneviewrs369943481
scholarrs369943481
googlers369943481
pharmgkbrs369943481
gwascentralrs369943481
openSNPrs369943481
23andMers369943481
23andMe allrs369943481
SNP Nexus

SNPshotrs369943481
SNPdbers369943481
MSV3drs369943481
GWAS Ctlgrs369943481
Max Magnitude0
ClinVar
Risk rs369943481(A,T;A,T)
Alt rs369943481(A,T;A,T)
Reference rs369943481(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231130C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238487.1,