GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 ×
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: rs121434407
rs121434407 		0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2008 2018
dbSNP: rs386833693
rs386833693 		0.925 0.120 9 128522658 intron variant A/G;T snv 1.5E-05; 9.7E-04
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0