KIFBP, kinesin family binding protein, 26128

N. diseases: 83; N. variants: 5
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
dbSNP: rs121434514
rs121434514 		1.000 0.160 10 68989100 stop gained C/T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121434515
rs121434515 		1.000 0.160 10 68989082 stop gained G/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730882150
rs730882150 		1.000 0.160 10 69005119 stop gained C/A snv 3.2E-05 6.3E-05
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730882151
rs730882151 		1.000 0.160 10 69005124 frameshift variant AG/- del
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0