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rs373144619

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373144619(C;T)
Make rs373144619(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100263
GeneLDLR
is asnp
is mentioned by
dbSNPrs373144619
ebirs373144619
HLIrs373144619
Exacrs373144619
Varsomers373144619
Maprs373144619
PheGenIrs373144619
hapmaprs373144619
1000 genomesrs373144619
hgdprs373144619
ensemblrs373144619
gopubmedrs373144619
geneviewrs373144619
scholarrs373144619
googlers373144619
pharmgkbrs373144619
gwascentralrs373144619
openSNPrs373144619
23andMers373144619
23andMe allrs373144619
SNP Nexus

SNPshotrs373144619
SNPdbers373144619
MSV3drs373144619
GWAS Ctlgrs373144619
Max Magnitude0
ClinVar
Risk rs373144619(T;T)
Alt rs373144619(T;T)
Reference rs373144619(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210939C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238476.1,