TBX6, T-box transcription factor 6, 6911

N. diseases: 52; N. variants: 11
Disease: Scoliosis, unspecified ×
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: rs202193096
rs202193096 		0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015