rs1187611948, 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 81751762 missense variant T/C snv 4.1E-06 0.800 0
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 0.010 1.000 1 2018 2018