GIGYF2, GRB10 interacting GYF protein 2, 26058

N. diseases: 54; N. variants: 28
Disease: LEBER CONGENITAL AMAUROSIS 16 ×
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: rs143607153
rs143607153 		1.000 2 232768552 missense variant A/G;T snv 6.4E-05
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.800 1.000 1 2011 2011
dbSNP: rs387906858
rs387906858 		1.000 2 232768778 stop gained G/A;C snv 4.0E-06
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs786205550
rs786205550 		1.000 2 232771004 missense variant A/G snv 7.0E-06
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs863224884
rs863224884 		0.925 0.040 2 232770905 missense variant G/A snv
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs869320631
rs869320631 		1.000 2 232771205 stop gained C/T snv
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0