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rs104894376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894376(A;T)
Make rs104894376(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position114677644
GeneTBX3
is asnp
is mentioned by
dbSNPrs104894376
dbSNP (classic)rs104894376
ClinGenrs104894376
ebirs104894376
HLIrs104894376
Exacrs104894376
Gnomadrs104894376
Varsomers104894376
LitVarrs104894376
Maprs104894376
PheGenIrs104894376
Biobankrs104894376
1000 genomesrs104894376
hgdprs104894376
ensemblrs104894376
geneviewrs104894376
scholarrs104894376
googlers104894376
pharmgkbrs104894376
gwascentralrs104894376
openSNPrs104894376
23andMers104894376
SNPshotrs104894376
SNPdbers104894376
MSV3drs104894376
GWAS Ctlgrs104894376
Max Magnitude0
OMIM601621
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894376(T;T)
Alt rs104894376(T;T)
Reference Rs104894376(A;A)
Significance Pathogenic
Disease Ulnar-mammary syndrome
Variation info
Gene TBX3
CLNDBN Ulnar-mammary syndrome
Reversed 1
HGVS NC_000012.11:g.115115449T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008453.2,