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rs121918139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918139(C;C)
Make rs121918139(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position150389520
GeneIYD
is asnp
is mentioned by
dbSNPrs121918139
dbSNP (classic)rs121918139
ClinGenrs121918139
ebirs121918139
HLIrs121918139
Exacrs121918139
Gnomadrs121918139
Varsomers121918139
LitVarrs121918139
Maprs121918139
PheGenIrs121918139
Biobankrs121918139
1000 genomesrs121918139
hgdprs121918139
ensemblrs121918139
geneviewrs121918139
scholarrs121918139
googlers121918139
pharmgkbrs121918139
gwascentralrs121918139
openSNPrs121918139
23andMers121918139
SNPshotrs121918139
SNPdbers121918139
MSV3drs121918139
GWAS Ctlgrs121918139
Max Magnitude0
OMIM612025
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918139(C;C)
Alt rs121918139(C;C)
Reference Rs121918139(T;T)
Significance Pathogenic
Disease Iodotyrosine deiodination defect
Variation info
Gene IYD
CLNDBN Iodotyrosine deiodination defect
Reversed 0
HGVS NC_000006.11:g.150710656T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000775.2,