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rs200533979

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200533979(C;T)
Make rs200533979(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11111541
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs200533979
ebirs200533979
HLIrs200533979
Exacrs200533979
Varsomers200533979
Maprs200533979
PheGenIrs200533979
hapmaprs200533979
1000 genomesrs200533979
hgdprs200533979
ensemblrs200533979
gopubmedrs200533979
geneviewrs200533979
scholarrs200533979
googlers200533979
pharmgkbrs200533979
gwascentralrs200533979
openSNPrs200533979
23andMers200533979
23andMe allrs200533979
SNP Nexus

SNPshotrs200533979
SNPdbers200533979
MSV3drs200533979
GWAS Ctlgrs200533979
Max Magnitude0
ClinVar
Risk rs200533979(T;T)
Alt rs200533979(T;T)
Reference rs200533979(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222217C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237445.1,