rs137853883, FKBP10

N. diseases: 5
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.
Bruck syndrome 1
CUI: C1850168
Disease: Bruck syndrome 1
8 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
OSTEOGENESIS IMPERFECTA, TYPE XI
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
3 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
OSTEOGENESIS IMPERFECTA, TYPE XII
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
5 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0