GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
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: rs121909352
rs121909352 		0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2008 2009
dbSNP: rs121909354
rs121909354 		1.000 0.080 8 96160568 missense variant C/A;G snv 2.3E-04; 2.8E-05
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2008 2009
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: rs1554571213
rs1554571213 		0.925 0.080 8 96144601 missense variant A/T snv
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.800 1.000 2 2016 2018
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
dbSNP: rs63751220
rs63751220 		0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2008 2008
dbSNP: rs121909353
rs121909353 		1.000 0.080 8 96144660 missense variant T/C snv 2.1E-04 2.8E-05
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2008 2009
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
dbSNP: rs1554571225
rs1554571225 		1.000 8 96144644 missense variant G/T snv
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.700 1.000 2 2016 2018
dbSNP: rs387906794
rs387906794 		0.925 8 96145336 missense variant C/A;T snv 4.9E-05
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 0
dbSNP: rs1554571213
rs1554571213 		0.925 0.080 8 96144601 missense variant A/T snv
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs63751220
rs63751220 		0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs63751220
rs63751220 		0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		0.010 1.000 1 2008 2008