GDF3, growth differentiation factor 3, 9573

N. diseases: 74; N. variants: 4
Disease: MICROPHTHALMIA, ISOLATED 7 ×
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: 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