TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Dysmorphic features ×
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: rs1555896474
rs1555896474 		1.000 22 19765900 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1992 2016