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rs104893656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893656(A;C)
Make rs104893656(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position113246826
GeneC15orf34, PAX8
is asnp
is mentioned by
dbSNPrs104893656
ebirs104893656
HLIrs104893656
Exacrs104893656
Varsomers104893656
Maprs104893656
PheGenIrs104893656
hapmaprs104893656
1000 genomesrs104893656
hgdprs104893656
ensemblrs104893656
gopubmedrs104893656
geneviewrs104893656
scholarrs104893656
googlers104893656
pharmgkbrs104893656
gwascentralrs104893656
openSNPrs104893656
23andMers104893656
23andMe allrs104893656
SNP Nexus

SNPshotrs104893656
SNPdbers104893656
MSV3drs104893656
GWAS Ctlgrs104893656
Max Magnitude0
OMIM167415
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893656(C;C)
Alt rs104893656(C;C)
Reference rs104893656(A;A)
Significance Pathogenic
Disease Thyroid agenesis
Variation info
Gene PAX8 PAX8-AS1
CLNDBN Thyroid agenesis
Reversed 1
HGVS NC_000002.11:g.114004403T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014798.25,