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rs748672083

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748672083(A;A)
Make rs748672083(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105499
GeneLDLR
is asnp
is mentioned by
dbSNPrs748672083
ebirs748672083
HLIrs748672083
Exacrs748672083
Varsomers748672083
Maprs748672083
PheGenIrs748672083
hapmaprs748672083
1000 genomesrs748672083
hgdprs748672083
ensemblrs748672083
gopubmedrs748672083
geneviewrs748672083
scholarrs748672083
googlers748672083
pharmgkbrs748672083
gwascentralrs748672083
openSNPrs748672083
23andMers748672083
23andMe allrs748672083
SNP Nexus

SNPshotrs748672083
SNPdbers748672083
MSV3drs748672083
GWAS Ctlgrs748672083
Max Magnitude0
ClinVar
Risk rs748672083(A,G,T;A,G,T)
Alt rs748672083(A,G,T;A,G,T)
Reference rs748672083(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216175C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238325.1,