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rs746959386

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746959386(C;T)
Make rs746959386(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116209
GeneLDLR
is asnp
is mentioned by
dbSNPrs746959386
ebirs746959386
HLIrs746959386
Exacrs746959386
Varsomers746959386
Maprs746959386
PheGenIrs746959386
hapmaprs746959386
1000 genomesrs746959386
hgdprs746959386
ensemblrs746959386
gopubmedrs746959386
geneviewrs746959386
scholarrs746959386
googlers746959386
pharmgkbrs746959386
gwascentralrs746959386
openSNPrs746959386
23andMers746959386
23andMe allrs746959386
SNP Nexus

SNPshotrs746959386
SNPdbers746959386
MSV3drs746959386
GWAS Ctlgrs746959386
Max Magnitude0
ClinVar
Risk rs746959386(T;T)
Alt rs746959386(T;T)
Reference rs746959386(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226885C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237626.1,