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rs2076739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2076739(A;A)
Make rs2076739(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132971804
GeneTG
is asnp
is mentioned by
dbSNPrs2076739
ebirs2076739
HLIrs2076739
Exacrs2076739
Varsomers2076739
Maprs2076739
PheGenIrs2076739
hapmaprs2076739
1000 genomesrs2076739
hgdprs2076739
ensemblrs2076739
gopubmedrs2076739
geneviewrs2076739
scholarrs2076739
googlers2076739
pharmgkbrs2076739
gwascentralrs2076739
openSNPrs2076739
23andMers2076739
23andMe allrs2076739
SNP Nexus

SNPshotrs2076739
SNPdbers2076739
MSV3drs2076739
GWAS Ctlgrs2076739
Max Magnitude0
OMIM188450
Desc
Variant0006
Relatedalso
ClinVar
Risk rs2076739(A;A)
Alt rs2076739(A;A)
Reference rs2076739(T;T)
Significance Pathogenic
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133984049T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013531.17,