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: rs200090198
rs200090198
1.000 0.040 16 2326214 missense variant G/A;C;T snv 7.2E-05; 2.5E-04
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
Eye Diseases 0.010 1.000 1 2014 2014