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rs121908085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908085(A;A)
Make rs121908085(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position1503956
GeneTPO
is asnp
is mentioned by
dbSNPrs121908085
dbSNP (classic)rs121908085
ClinGenrs121908085
ebirs121908085
HLIrs121908085
Exacrs121908085
Gnomadrs121908085
Varsomers121908085
LitVarrs121908085
Maprs121908085
PheGenIrs121908085
Biobankrs121908085
1000 genomesrs121908085
hgdprs121908085
ensemblrs121908085
geneviewrs121908085
scholarrs121908085
googlers121908085
pharmgkbrs121908085
gwascentralrs121908085
openSNPrs121908085
23andMers121908085
SNPshotrs121908085
SNPdbers121908085
MSV3drs121908085
GWAS Ctlgrs121908085
GMAF0.0004591
Max Magnitude0
OMIM606765
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908085(A;A)
Alt rs121908085(A;A)
Reference Rs121908085(G;G)
Significance Pathogenic
Disease Deficiency of iodide peroxidase Congenital hypothyroidism
Variation info
Gene TPO
CLNDBN Deficiency of iodide peroxidase Congenital hypothyroidism
Reversed 0
HGVS NC_000002.11:g.1507728G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004261.3, RCV000301840.1,