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.
Beading of ribs
CUI: C0426824
Disease: Beading of ribs
1 0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 0.700 0
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 0.700 0
OSTEOGENESIS IMPERFECTA, TYPE XV
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
7 0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins 0.700 0