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rs748131256

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs748131256(C;C)
Make rs748131256(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11106592
GeneLDLR
is asnp
is mentioned by
dbSNPrs748131256
ebirs748131256
HLIrs748131256
Exacrs748131256
Varsomers748131256
Maprs748131256
PheGenIrs748131256
hapmaprs748131256
1000 genomesrs748131256
hgdprs748131256
ensemblrs748131256
gopubmedrs748131256
geneviewrs748131256
scholarrs748131256
googlers748131256
pharmgkbrs748131256
gwascentralrs748131256
openSNPrs748131256
23andMers748131256
23andMe allrs748131256
SNP Nexus

SNPshotrs748131256
SNPdbers748131256
MSV3drs748131256
GWAS Ctlgrs748131256
Max Magnitude0
ClinVar
Risk rs748131256(C;C)
Alt rs748131256(C;C)
Reference rs748131256(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217268T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237332.1,