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rs748300548

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748300548(C;T)
Make rs748300548(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110756
GeneLDLR
is asnp
is mentioned by
dbSNPrs748300548
ebirs748300548
HLIrs748300548
Exacrs748300548
Varsomers748300548
Maprs748300548
PheGenIrs748300548
hapmaprs748300548
1000 genomesrs748300548
hgdprs748300548
ensemblrs748300548
gopubmedrs748300548
geneviewrs748300548
scholarrs748300548
googlers748300548
pharmgkbrs748300548
gwascentralrs748300548
openSNPrs748300548
23andMers748300548
23andMe allrs748300548
SNP Nexus

SNPshotrs748300548
SNPdbers748300548
MSV3drs748300548
GWAS Ctlgrs748300548
Max Magnitude0
ClinVar
Risk rs748300548(T;T)
Alt rs748300548(T;T)
Reference rs748300548(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221432C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237544.1,