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rs372828849

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs372828849(A;A)
Make rs372828849(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102743
GeneLDLR
is asnp
is mentioned by
dbSNPrs372828849
ebirs372828849
HLIrs372828849
Exacrs372828849
Varsomers372828849
Maprs372828849
PheGenIrs372828849
hapmaprs372828849
1000 genomesrs372828849
hgdprs372828849
ensemblrs372828849
gopubmedrs372828849
geneviewrs372828849
scholarrs372828849
googlers372828849
pharmgkbrs372828849
gwascentralrs372828849
openSNPrs372828849
23andMers372828849
23andMe allrs372828849
SNP Nexus

SNPshotrs372828849
SNPdbers372828849
MSV3drs372828849
GWAS Ctlgrs372828849
Max Magnitude0
ClinVar
Risk rs372828849(A,C;A,C)
Alt rs372828849(A,C;A,C)
Reference rs372828849(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213419T>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238563.1,