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rs121918138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918138(C;T)
Make rs121918138(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position150389474
GeneIYD
is asnp
is mentioned by
dbSNPrs121918138
dbSNP (classic)rs121918138
ClinGenrs121918138
ebirs121918138
HLIrs121918138
Exacrs121918138
Gnomadrs121918138
Varsomers121918138
LitVarrs121918138
Maprs121918138
PheGenIrs121918138
Biobankrs121918138
1000 genomesrs121918138
hgdprs121918138
ensemblrs121918138
geneviewrs121918138
scholarrs121918138
googlers121918138
pharmgkbrs121918138
gwascentralrs121918138
openSNPrs121918138
23andMers121918138
SNPshotrs121918138
SNPdbers121918138
MSV3drs121918138
GWAS Ctlgrs121918138
Max Magnitude0
OMIM612025
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918138(T;T)
Alt rs121918138(T;T)
Reference Rs121918138(C;C)
Significance Pathogenic
Disease Iodotyrosine deiodination defect
Variation info
Gene IYD
CLNDBN Iodotyrosine deiodination defect
Reversed 0
HGVS NC_000006.11:g.150710610C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000773.2,