GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: LEBER CONGENITAL AMAUROSIS 17 ×
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: rs121909352
rs121909352 		0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.800 1.000 1 2013 2013
dbSNP: rs1401531865
rs1401531865 		1.000 8 96145055 splice donor variant C/G;R snv 2.3E-05 7.0E-06
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.800 1.000 1 2013 2013
dbSNP: rs387906794
rs387906794 		0.925 8 96145336 missense variant C/A;T snv 4.9E-05
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.800 1.000 1 2013 2013
dbSNP: rs397514725
rs397514725 		1.000 8 96160524 missense variant C/G;T snv 7.3E-05; 2.4E-05
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.800 1.000 1 2013 2013