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rs104893655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893655(C;T)
Make rs104893655(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position113244494
GenePAX8, PAX8-AS1
is asnp
is mentioned by
dbSNPrs104893655
dbSNP (classic)rs104893655
ClinGenrs104893655
ebirs104893655
HLIrs104893655
Exacrs104893655
Gnomadrs104893655
Varsomers104893655
LitVarrs104893655
Maprs104893655
PheGenIrs104893655
Biobankrs104893655
1000 genomesrs104893655
hgdprs104893655
ensemblrs104893655
geneviewrs104893655
scholarrs104893655
googlers104893655
pharmgkbrs104893655
gwascentralrs104893655
openSNPrs104893655
23andMers104893655
SNPshotrs104893655
SNPdbers104893655
MSV3drs104893655
GWAS Ctlgrs104893655
Max Magnitude0
OMIM167415
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893655(T;T)
Alt rs104893655(T;T)
Reference Rs104893655(C;C)
Significance Pathogenic
Disease Thyroid agenesis
Variation info
Gene PAX8 PAX8-AS1
CLNDBN Thyroid agenesis
Reversed 1
HGVS NC_000002.11:g.114002071G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014793.25,