rs200090198, 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 2326214 missense variant G/A;C;T snv 7.2E-05; 2.5E-04 0.010 1.000 1 2014 2014