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rs759109699

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759109699(C;T)
Make rs759109699(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11106630
GeneLDLR
is asnp
is mentioned by
dbSNPrs759109699
ebirs759109699
HLIrs759109699
Exacrs759109699
Varsomers759109699
Maprs759109699
PheGenIrs759109699
hapmaprs759109699
1000 genomesrs759109699
hgdprs759109699
ensemblrs759109699
gopubmedrs759109699
geneviewrs759109699
scholarrs759109699
googlers759109699
pharmgkbrs759109699
gwascentralrs759109699
openSNPrs759109699
23andMers759109699
23andMe allrs759109699
SNP Nexus

SNPshotrs759109699
SNPdbers759109699
MSV3drs759109699
GWAS Ctlgrs759109699
Max Magnitude0
ClinVar
Risk rs759109699(G,T;G,T)
Alt rs759109699(G,T;G,T)
Reference rs759109699(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217306C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237163.1,