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rs104893669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893669(A;T)
Make rs104893669(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position1484596
GeneTPO
is asnp
is mentioned by
dbSNPrs104893669
dbSNP (classic)rs104893669
ClinGenrs104893669
ebirs104893669
HLIrs104893669
Exacrs104893669
Gnomadrs104893669
Varsomers104893669
LitVarrs104893669
Maprs104893669
PheGenIrs104893669
Biobankrs104893669
1000 genomesrs104893669
hgdprs104893669
ensemblrs104893669
geneviewrs104893669
scholarrs104893669
googlers104893669
pharmgkbrs104893669
gwascentralrs104893669
openSNPrs104893669
23andMers104893669
SNPshotrs104893669
SNPdbers104893669
MSV3drs104893669
GWAS Ctlgrs104893669
Max Magnitude0
OMIM606765
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893669(G;G) rs104893669(T;T)
Alt rs104893669(G;G) rs104893669(T;T)
Reference Rs104893669(A;A)
Significance Pathogenic
Disease Deficiency of iodide peroxidase
Variation info
Gene TPO
CLNDBN Deficiency of iodide peroxidase
Reversed 0
HGVS NC_000002.11:g.1488368A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004258.2,