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rs137854434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854434(A;A)
Make rs137854434(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position133029907
GeneTG
is asnp
is mentioned by
dbSNPrs137854434
dbSNP (classic)rs137854434
ClinGenrs137854434
ebirs137854434
HLIrs137854434
Exacrs137854434
Gnomadrs137854434
Varsomers137854434
LitVarrs137854434
Maprs137854434
PheGenIrs137854434
Biobankrs137854434
1000 genomesrs137854434
hgdprs137854434
ensemblrs137854434
geneviewrs137854434
scholarrs137854434
googlers137854434
pharmgkbrs137854434
gwascentralrs137854434
openSNPrs137854434
23andMers137854434
SNPshotrs137854434
SNPdbers137854434
MSV3drs137854434
GWAS Ctlgrs137854434
Max Magnitude0
OMIM188450
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137854434(A;A)
Alt rs137854434(A;A)
Reference Rs137854434(G;G)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.134042152G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013540.24,