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rs2229843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2229843(G;T)
Make rs2229843(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132888417
GeneTG
is asnp
is mentioned by
dbSNPrs2229843
ebirs2229843
HLIrs2229843
Exacrs2229843
Varsomers2229843
Maprs2229843
PheGenIrs2229843
hapmaprs2229843
1000 genomesrs2229843
hgdprs2229843
ensemblrs2229843
gopubmedrs2229843
geneviewrs2229843
scholarrs2229843
googlers2229843
pharmgkbrs2229843
gwascentralrs2229843
openSNPrs2229843
23andMers2229843
23andMe allrs2229843
SNP Nexus

SNPshotrs2229843
SNPdbers2229843
MSV3drs2229843
GWAS Ctlgrs2229843
GMAF0.001377
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM188450
Desc
Variant0002
Relatedalso


ClinVar
Risk rs2229843(T;T)
Alt rs2229843(T;T)
Reference rs2229843(G;G)
Significance Unknown
Disease Iodotyrosyl coupling defect
Variation info
Gene TG
CLNDBN Iodotyrosyl coupling defect
Reversed 0
HGVS NC_000008.10:g.133900662G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013527.2,



GET Evidence
TG-Q870H
aa_change Gln870His
aa_change_short Q870H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00288158
summary