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rs121918140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918140(A;A)
Make rs121918140(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position150394226
GeneIYD
is asnp
is mentioned by
dbSNPrs121918140
dbSNP (classic)rs121918140
ClinGenrs121918140
ebirs121918140
HLIrs121918140
Exacrs121918140
Gnomadrs121918140
Varsomers121918140
LitVarrs121918140
Maprs121918140
PheGenIrs121918140
Biobankrs121918140
1000 genomesrs121918140
hgdprs121918140
ensemblrs121918140
geneviewrs121918140
scholarrs121918140
googlers121918140
pharmgkbrs121918140
gwascentralrs121918140
openSNPrs121918140
23andMers121918140
SNPshotrs121918140
SNPdbers121918140
MSV3drs121918140
GWAS Ctlgrs121918140
Max Magnitude0
OMIM612025
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918140(A;A)
Alt rs121918140(A;A)
Reference Rs121918140(G;G)
Significance Pathogenic
Disease Iodotyrosine deiodination defect
Variation info
Gene IYD
CLNDBN Iodotyrosine deiodination defect
Reversed 0
HGVS NC_000006.11:g.150715362G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000776.3,