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rs121912649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912649(A;A)
Make rs121912649(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132967797
GeneTG
is asnp
is mentioned by
dbSNPrs121912649
ebirs121912649
HLIrs121912649
Exacrs121912649
Varsomers121912649
Maprs121912649
PheGenIrs121912649
hapmaprs121912649
1000 genomesrs121912649
hgdprs121912649
ensemblrs121912649
gopubmedrs121912649
geneviewrs121912649
scholarrs121912649
googlers121912649
pharmgkbrs121912649
gwascentralrs121912649
openSNPrs121912649
23andMers121912649
23andMe allrs121912649
SNP Nexus

SNPshotrs121912649
SNPdbers121912649
MSV3drs121912649
GWAS Ctlgrs121912649
Max Magnitude0
OMIM188450
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912649(A;A)
Alt rs121912649(A;A)
Reference rs121912649(G;G)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133980042G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013541.23,