rs876657633, 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.
Hamman-Rich syndrome
CUI: C0085786
Disease: Hamman-Rich syndrome
8 1.000 0.120 16 2300001 splice donor variant GCACCTT/TGG delins 0.700 1.000 2 2008 2014