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rs104893660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893660(A;G)
Make rs104893660(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position113246785
GenePAX8, PAX8-AS1
is asnp
is mentioned by
dbSNPrs104893660
dbSNP (classic)rs104893660
ClinGenrs104893660
ebirs104893660
HLIrs104893660
Exacrs104893660
Gnomadrs104893660
Varsomers104893660
LitVarrs104893660
Maprs104893660
PheGenIrs104893660
Biobankrs104893660
1000 genomesrs104893660
hgdprs104893660
ensemblrs104893660
geneviewrs104893660
scholarrs104893660
googlers104893660
pharmgkbrs104893660
gwascentralrs104893660
openSNPrs104893660
23andMers104893660
SNPshotrs104893660
SNPdbers104893660
MSV3drs104893660
GWAS Ctlgrs104893660
Max Magnitude0
OMIM167415
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893660(G;G)
Alt rs104893660(G;G)
Reference Rs104893660(A;A)
Significance Pathogenic
Disease Thyroid agenesis
Variation info
Gene PAX8 PAX8-AS1
CLNDBN Thyroid agenesis
Reversed 1
HGVS NC_000002.11:g.114004362T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014797.24,