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rs140807148

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs140807148(C;C)
Make rs140807148(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105231
GeneLDLR
is asnp
is mentioned by
dbSNPrs140807148
ebirs140807148
HLIrs140807148
Exacrs140807148
Varsomers140807148
Maprs140807148
PheGenIrs140807148
hapmaprs140807148
1000 genomesrs140807148
hgdprs140807148
ensemblrs140807148
gopubmedrs140807148
geneviewrs140807148
scholarrs140807148
googlers140807148
pharmgkbrs140807148
gwascentralrs140807148
openSNPrs140807148
23andMers140807148
23andMe allrs140807148
SNP Nexus

SNPshotrs140807148
SNPdbers140807148
MSV3drs140807148
GWAS Ctlgrs140807148
Max Magnitude0
ClinVar
Risk rs140807148(C;C)
Alt rs140807148(C;C)
Reference rs140807148(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215907T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237408.1,