rs121909389, SLC4A11

N. diseases: 2
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.
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
24 0.925 0.080 20 3230587 missense variant C/T snv 4.0E-06 0.700 1.000 12 2006 2016
Chandler syndrome
CUI: C0544008
Disease: Chandler syndrome
10 0.925 0.080 20 3230587 missense variant C/T snv 4.0E-06 0.700 0