TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Disease: Ulnar-mammary syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894376
rs104894376 		1.000 0.080 12 114677644 stop gained T/A snv
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060505020
rs1060505020 		1.000 0.080 12 114674452 stop gained G/A snv
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565858163
rs1565858163 		1.000 0.080 12 114672091 frameshift variant -/GC delins
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514484
rs397514484 		1.000 0.080 12 114676361 stop gained G/A snv
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0