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rs759876319

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs759876319(A;A)
Make rs759876319(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116141
GeneLDLR
is asnp
is mentioned by
dbSNPrs759876319
ebirs759876319
HLIrs759876319
Exacrs759876319
Varsomers759876319
Maprs759876319
PheGenIrs759876319
hapmaprs759876319
1000 genomesrs759876319
hgdprs759876319
ensemblrs759876319
gopubmedrs759876319
geneviewrs759876319
scholarrs759876319
googlers759876319
pharmgkbrs759876319
gwascentralrs759876319
openSNPrs759876319
23andMers759876319
23andMe allrs759876319
SNP Nexus

SNPshotrs759876319
SNPdbers759876319
MSV3drs759876319
GWAS Ctlgrs759876319
Max Magnitude0
ClinVar
Risk rs759876319(A;A)
Alt rs759876319(A;A)
Reference rs759876319(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226817G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237131.1,