LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: PITUITARY DWARFISM I ×
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: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2014
dbSNP: rs759838407
rs759838407 		0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2014 2014