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rs747068848

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747068848(C;C)
Make rs747068848(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11089448
GeneLDLR
is asnp
is mentioned by
dbSNPrs747068848
ebirs747068848
HLIrs747068848
Exacrs747068848
Varsomers747068848
Maprs747068848
PheGenIrs747068848
hapmaprs747068848
1000 genomesrs747068848
hgdprs747068848
ensemblrs747068848
gopubmedrs747068848
geneviewrs747068848
scholarrs747068848
googlers747068848
pharmgkbrs747068848
gwascentralrs747068848
openSNPrs747068848
23andMers747068848
23andMe allrs747068848
SNP Nexus

SNPshotrs747068848
SNPdbers747068848
MSV3drs747068848
GWAS Ctlgrs747068848
Max Magnitude0
ClinVar
Risk rs747068848(C;C)
Alt rs747068848(C;C)
Reference rs747068848(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200124T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238366.1,