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rs747344293

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747344293(-;-)
Make rs747344293(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11129601
GeneLDLR
is asnp
is mentioned by
dbSNPrs747344293
ebirs747344293
HLIrs747344293
Exacrs747344293
Varsomers747344293
Maprs747344293
PheGenIrs747344293
hapmaprs747344293
1000 genomesrs747344293
hgdprs747344293
ensemblrs747344293
gopubmedrs747344293
geneviewrs747344293
scholarrs747344293
googlers747344293
pharmgkbrs747344293
gwascentralrs747344293
openSNPrs747344293
23andMers747344293
23andMe allrs747344293
SNP Nexus

SNPshotrs747344293
SNPdbers747344293
MSV3drs747344293
GWAS Ctlgrs747344293
Max Magnitude0
ClinVar
Risk rs747344293(CC,CTTT;CC,CTTT)
Alt rs747344293(CC,CTTT;CC,CTTT)
Reference rs747344293(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240277dupC
CLNSRC LDLR @ LOVD
CLNACC RCV000237430.1,