AGBL5, ATP/GTP binding protein like 5, 60509

N. diseases: 35; N. variants: 3
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: rs879253768
rs879253768 		0.925 0.080 2 27055228 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.800 1.000 4 2015 2016
dbSNP: rs879253769
rs879253769 		1.000 2 27055171 missense variant C/T snv 7.0E-06
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.800 1.000 4 2015 2016
dbSNP: rs780394281
rs780394281 		1.000 2 27055186 missense variant C/T snv 8.0E-06
CUI: C4310759
Disease: RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 75 		0.700 1.000 4 2015 2016
dbSNP: rs879253768
rs879253768 		0.925 0.080 2 27055228 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2015 2015