GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder) ×
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: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2009 2014
dbSNP: rs121909355
rs121909355 		1.000 0.080 8 96145173 missense variant T/A;C snv 2.0E-05
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2009 2014
dbSNP: rs121909356
rs121909356 		1.000 0.080 8 96144951 missense variant G/T snv 5.1E-04 7.0E-05
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2009 2014
dbSNP: rs140579014
rs140579014 		1.000 0.080 8 96160337 missense variant T/C snv 1.4E-03 6.0E-04
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2009 2014