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rs746091400

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs746091400(C;C)
Make rs746091400(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105597
GeneLDLR
is asnp
is mentioned by
dbSNPrs746091400
ebirs746091400
HLIrs746091400
Exacrs746091400
Varsomers746091400
Maprs746091400
PheGenIrs746091400
hapmaprs746091400
1000 genomesrs746091400
hgdprs746091400
ensemblrs746091400
gopubmedrs746091400
geneviewrs746091400
scholarrs746091400
googlers746091400
pharmgkbrs746091400
gwascentralrs746091400
openSNPrs746091400
23andMers746091400
23andMe allrs746091400
SNP Nexus

SNPshotrs746091400
SNPdbers746091400
MSV3drs746091400
GWAS Ctlgrs746091400
Max Magnitude0
ClinVar
Risk rs746091400(C,G;C,G)
Alt rs746091400(C,G;C,G)
Reference rs746091400(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216273T>C; NC_000019.9:g.11216273T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238043.1, RCV000237108.1,