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rs730882078

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882078(C;T)
Make rs730882078(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102714
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882078
ebirs730882078
HLIrs730882078
Exacrs730882078
Varsomers730882078
Maprs730882078
PheGenIrs730882078
hapmaprs730882078
1000 genomesrs730882078
hgdprs730882078
ensemblrs730882078
gopubmedrs730882078
geneviewrs730882078
scholarrs730882078
googlers730882078
pharmgkbrs730882078
gwascentralrs730882078
openSNPrs730882078
23andMers730882078
23andMe allrs730882078
SNP Nexus

SNPshotrs730882078
SNPdbers730882078
MSV3drs730882078
GWAS Ctlgrs730882078
Max Magnitude0
ClinVar
Risk rs730882078(A,T;A,T)
Alt rs730882078(A,T;A,T)
Reference rs730882078(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11213390C>A; NC_000019.9:g.11213390C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238313.1, RCV000161952.1, RCV000237918.1,