XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
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: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2014 2014