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rs747134711

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747134711(C;C)
Make rs747134711(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120101
GeneLDLR
is asnp
is mentioned by
dbSNPrs747134711
ebirs747134711
HLIrs747134711
Exacrs747134711
Varsomers747134711
Maprs747134711
PheGenIrs747134711
hapmaprs747134711
1000 genomesrs747134711
hgdprs747134711
ensemblrs747134711
gopubmedrs747134711
geneviewrs747134711
scholarrs747134711
googlers747134711
pharmgkbrs747134711
gwascentralrs747134711
openSNPrs747134711
23andMers747134711
23andMe allrs747134711
SNP Nexus

SNPshotrs747134711
SNPdbers747134711
MSV3drs747134711
GWAS Ctlgrs747134711
Max Magnitude0
ClinVar
Risk rs747134711(C;C)
Alt rs747134711(C;C)
Reference rs747134711(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230777T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237217.1,