rs1554200371, TENT5A

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.
OSTEOGENESIS IMPERFECTA, TYPE XVIII
CUI: C4693736
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVIII
3 0.925 0.120 6 81750332 missense variant T/C snv 0.800 1.000 1 2018 2018
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
67 0.925 0.120 6 81750332 missense variant T/C snv 0.010 1.000 1 2018 2018