Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs755799430
rs755799430
VSX2
0.925 0.080 14 74259689 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1864721
Disease: Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Isolated, with Coloboma 3 		0.700 1.000 2 2004 2014
dbSNP: rs755799430
rs755799430
VSX2
0.925 0.080 14 74259689 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.700 1.000 1 2016 2016