GDF3, growth differentiation factor 3, 9573

N. diseases: 74; N. variants: 4
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: rs387906945
rs387906945 		1.000 12 7690059 missense variant A/C;G snv 5.7E-04
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.800 1.000 1 2010 2010
dbSNP: rs387906946
rs387906946 		1.000 12 7690153 missense variant G/A snv 2.1E-04 4.9E-05
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.800 1.000 1 2010 2010
dbSNP: rs146973734
rs146973734 		1.000 12 7690389 missense variant C/T snv 1.9E-04 1.8E-04
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.800 0
dbSNP: rs140926412
rs140926412 		0.925 12 7690177 missense variant G/A;T snv 2.0E-03; 4.0E-06
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs140926412
rs140926412 		0.925 12 7690177 missense variant G/A;T snv 2.0E-03; 4.0E-06
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 0