FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869025223
rs869025223 		1.000 17 41819588 frameshift variant A/- del
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.700 1.000 1 2016 2016
dbSNP: rs137853883
rs137853883 		0.882 0.120 17 41819307 frameshift variant C/-;CC delins
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.700 0
dbSNP: rs1567855132
rs1567855132 		1.000 17 41819371 stop gained -/TGATGGAC delins
CUI: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI 		0.700 0