KIFBP, kinesin family binding protein, 26128

N. diseases: 83; N. variants: 5
Disease: Goldberg-Shprintzen megacolon 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: rs1293340864
rs1293340864 		1.000 0.120 10 69011001 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017