rs748819386, ABCA3

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cataract microcornea syndrome
CUI: C1861829
Disease: Cataract microcornea syndrome
5 1.000 0.040 16 2295596 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2014 2014