FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
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: rs387906960
rs387906960
1.000 0.120 17 41817156 missense variant G/A snv 1.2E-05
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2011 2013
dbSNP: rs397514674
rs397514674
1.000 0.120 17 41817149 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2011 2013
dbSNP: rs782653042
rs782653042
1.000 0.120 17 41818104 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2013
dbSNP: rs137853883
rs137853883
0.882 0.120 17 41819307 frameshift variant C/-;CC delins
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555616552
rs1555616552
1.000 0.120 17 41819220 frameshift variant C/-;CC delins
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567856056
rs1567856056
1.000 0.120 17 41820960 frameshift variant -/C delins
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs397509383
rs397509383
0.925 0.120 17 41820961 frameshift variant CC/A delins
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs869320752
rs869320752
1.000 0.120 17 41819357 inframe deletion TAC/- delins
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0