GTF2I, general transcription factor IIi, 2969

N. diseases: 249; N. variants: 14
Disease: Chromosome 11p11.2 Deletion 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: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2016 2016