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rs121908086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908086(A;A)
Make rs121908086(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position1493976
GeneTPO
is asnp
is mentioned by
dbSNPrs121908086
dbSNP (classic)rs121908086
ClinGenrs121908086
ebirs121908086
HLIrs121908086
Exacrs121908086
Gnomadrs121908086
Varsomers121908086
LitVarrs121908086
Maprs121908086
PheGenIrs121908086
Biobankrs121908086
1000 genomesrs121908086
hgdprs121908086
ensemblrs121908086
geneviewrs121908086
scholarrs121908086
googlers121908086
pharmgkbrs121908086
gwascentralrs121908086
openSNPrs121908086
23andMers121908086
SNPshotrs121908086
SNPdbers121908086
MSV3drs121908086
GWAS Ctlgrs121908086
Max Magnitude0
OMIM606765
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908086(A;A)
Alt rs121908086(A;A)
Reference Rs121908086(G;G)
Significance Pathogenic
Disease Deficiency of iodide peroxidase
Variation info
Gene TPO
CLNDBN Deficiency of iodide peroxidase
Reversed 0
HGVS NC_000002.11:g.1497748G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004263.3,