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rs121912650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912650(A;A)
Make rs121912650(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position133022121
GeneTG
is asnp
is mentioned by
dbSNPrs121912650
ClinGenrs121912650
ebirs121912650
HLIrs121912650
Exacrs121912650
Varsomers121912650
Maprs121912650
PheGenIrs121912650
hapmaprs121912650
1000 genomesrs121912650
hgdprs121912650
ensemblrs121912650
gopubmedrs121912650
geneviewrs121912650
scholarrs121912650
googlers121912650
pharmgkbrs121912650
gwascentralrs121912650
openSNPrs121912650
23andMers121912650
23andMe allrs121912650
SNP Nexus

SNPshotrs121912650
SNPdbers121912650
MSV3drs121912650
GWAS Ctlgrs121912650
Max Magnitude0
OMIM188450
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121912650(A;A)
Alt rs121912650(A;A)
Reference Rs121912650(G;G)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.134034366G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013542.22,