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rs121912646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912646(C;T)
Make rs121912646(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132923397
GeneTG
is asnp
is mentioned by
dbSNPrs121912646
ebirs121912646
HLIrs121912646
Exacrs121912646
Varsomers121912646
Maprs121912646
PheGenIrs121912646
hapmaprs121912646
1000 genomesrs121912646
hgdprs121912646
ensemblrs121912646
gopubmedrs121912646
geneviewrs121912646
scholarrs121912646
googlers121912646
pharmgkbrs121912646
gwascentralrs121912646
openSNPrs121912646
23andMers121912646
23andMe allrs121912646
SNP Nexus

SNPshotrs121912646
SNPdbers121912646
MSV3drs121912646
GWAS Ctlgrs121912646
Max Magnitude0
OMIM188450
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912646(T;T)
Alt rs121912646(T;T)
Reference rs121912646(C;C)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133935642C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013528.17,