rs137853892, SERPINH1

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 X
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
3 0.925 0.120 11 75566582 missense variant T/C snv 0.800 1.000 1 2010 2010
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.120 11 75566582 missense variant T/C snv 0.010 1.000 1 2010 2010