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rs121908087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908087(C;T)
Make rs121908087(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position1496059
GeneTPO
is asnp
is mentioned by
dbSNPrs121908087
dbSNP (classic)rs121908087
ClinGenrs121908087
ebirs121908087
HLIrs121908087
Exacrs121908087
Gnomadrs121908087
Varsomers121908087
LitVarrs121908087
Maprs121908087
PheGenIrs121908087
Biobankrs121908087
1000 genomesrs121908087
hgdprs121908087
ensemblrs121908087
geneviewrs121908087
scholarrs121908087
googlers121908087
pharmgkbrs121908087
gwascentralrs121908087
openSNPrs121908087
23andMers121908087
SNPshotrs121908087
SNPdbers121908087
MSV3drs121908087
GWAS Ctlgrs121908087
Max Magnitude0
OMIM606765
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908087(T;T)
Alt rs121908087(T;T)
Reference Rs121908087(C;C)
Significance Pathogenic
Disease Deficiency of iodide peroxidase
Variation info
Gene TPO
CLNDBN Deficiency of iodide peroxidase
Reversed 0
HGVS NC_000002.11:g.1499831C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004266.3,