Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 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: rs387906910
rs387906910 		1.000 2 219210036 missense variant G/C snv
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.800 1.000 1 2012 2012
dbSNP: rs387906911
rs387906911 		1.000 2 219218505 missense variant C/T snv 1.9E-04 2.8E-05
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.800 1.000 1 2012 2012