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rs752596535

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752596535(A;A)
Make rs752596535(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105407
GeneLDLR
is asnp
is mentioned by
dbSNPrs752596535
ebirs752596535
HLIrs752596535
Exacrs752596535
Varsomers752596535
Maprs752596535
PheGenIrs752596535
hapmaprs752596535
1000 genomesrs752596535
hgdprs752596535
ensemblrs752596535
gopubmedrs752596535
geneviewrs752596535
scholarrs752596535
googlers752596535
pharmgkbrs752596535
gwascentralrs752596535
openSNPrs752596535
23andMers752596535
23andMe allrs752596535
SNP Nexus

SNPshotrs752596535
SNPdbers752596535
MSV3drs752596535
GWAS Ctlgrs752596535
Max Magnitude0
ClinVar
Risk rs752596535(A,G,T;A,G,T)
Alt rs752596535(A,G,T;A,G,T)
Reference rs752596535(C;C)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216083C>A; NC_000019.9:g.11216083C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000182339.1, RCV000211619.2, RCV000237146.1,