GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Disease: Arthrogryposis ×
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: rs121434409
rs121434409 		0.925 0.120 9 128541124 missense variant T/C snv 3.6E-05 2.1E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018