EFL1, elongation factor like GTPase 1, 79631

N. diseases: 73; N. variants: 13
Disease: Shwachman syndrome ×
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: rs1316615934
rs1316615934 		0.925 15 82151809 missense variant A/T snv 8.0E-06
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs376095522
rs376095522 		1.000 15 82130452 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.010 1.000 1 2019 2019