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rs121912647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912647(C;C)
Make rs121912647(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132906786
GeneTG
is asnp
is mentioned by
dbSNPrs121912647
ebirs121912647
HLIrs121912647
Exacrs121912647
Varsomers121912647
Maprs121912647
PheGenIrs121912647
hapmaprs121912647
1000 genomesrs121912647
hgdprs121912647
ensemblrs121912647
gopubmedrs121912647
geneviewrs121912647
scholarrs121912647
googlers121912647
pharmgkbrs121912647
gwascentralrs121912647
openSNPrs121912647
23andMers121912647
23andMe allrs121912647
SNP Nexus

SNPshotrs121912647
SNPdbers121912647
MSV3drs121912647
GWAS Ctlgrs121912647
Max Magnitude0
OMIM188450
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912647(C;C)
Alt rs121912647(C;C)
Reference rs121912647(T;T)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133919031T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013530.23,