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rs137854433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854433(C;C)
Make rs137854433(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132898809
GeneTG
is asnp
is mentioned by
dbSNPrs137854433
dbSNP (classic)rs137854433
ClinGenrs137854433
ebirs137854433
HLIrs137854433
Exacrs137854433
Gnomadrs137854433
Varsomers137854433
LitVarrs137854433
Maprs137854433
PheGenIrs137854433
Biobankrs137854433
1000 genomesrs137854433
hgdprs137854433
ensemblrs137854433
geneviewrs137854433
scholarrs137854433
googlers137854433
pharmgkbrs137854433
gwascentralrs137854433
openSNPrs137854433
23andMers137854433
SNPshotrs137854433
SNPdbers137854433
MSV3drs137854433
GWAS Ctlgrs137854433
Max Magnitude0
OMIM188450
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854433(C;C)
Alt rs137854433(C;C)
Reference Rs137854433(T;T)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133911054T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013539.17,