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rs121912648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912648(C;T)
Make rs121912648(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132882609
GeneTG
is asnp
is mentioned by
dbSNPrs121912648
ebirs121912648
HLIrs121912648
Exacrs121912648
Varsomers121912648
Maprs121912648
PheGenIrs121912648
hapmaprs121912648
1000 genomesrs121912648
hgdprs121912648
ensemblrs121912648
gopubmedrs121912648
geneviewrs121912648
scholarrs121912648
googlers121912648
pharmgkbrs121912648
gwascentralrs121912648
openSNPrs121912648
23andMers121912648
23andMe allrs121912648
SNP Nexus

SNPshotrs121912648
SNPdbers121912648
MSV3drs121912648
GWAS Ctlgrs121912648
Max Magnitude0
OMIM188450
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912648(T;T)
Alt rs121912648(T;T)
Reference rs121912648(C;C)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133894854C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013532.18,