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rs200143634

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200143634(C;C)
Make rs200143634(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113543
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs200143634
ebirs200143634
HLIrs200143634
Exacrs200143634
Varsomers200143634
Maprs200143634
PheGenIrs200143634
hapmaprs200143634
1000 genomesrs200143634
hgdprs200143634
ensemblrs200143634
gopubmedrs200143634
geneviewrs200143634
scholarrs200143634
googlers200143634
pharmgkbrs200143634
gwascentralrs200143634
openSNPrs200143634
23andMers200143634
23andMe allrs200143634
SNP Nexus

SNPshotrs200143634
SNPdbers200143634
MSV3drs200143634
GWAS Ctlgrs200143634
Max Magnitude0
ClinVar
Risk rs200143634(C;C)
Alt rs200143634(C;C)
Reference rs200143634(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224219T>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237859.1,