FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII ×
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: rs137853883
rs137853883 		0.882 0.120 17 41819307 frameshift variant C/-;CC delins
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.700 0
dbSNP: rs372896892
rs372896892 		1.000 17 41820412 stop gained C/G;T snv 4.0E-06
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.700 0
dbSNP: rs387907325
rs387907325 		1.000 17 41819559 frameshift variant -/T delins
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.700 0
dbSNP: rs397509383
rs397509383 		0.925 0.120 17 41820961 frameshift variant CC/A delins
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.700 0