Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906960
rs387906960
FKBP10
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 22949511

2013
dbSNP: rs387906960
rs387906960
FKBP10
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288

2011
dbSNP: rs397514674
rs397514674
FKBP10
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 22949511

2013
dbSNP: rs397514674
rs397514674
FKBP10
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288

2011
dbSNP: rs782653042
rs782653042
FKBP10
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GeneticVariation UNIPROT Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 22949511

2013
dbSNP: rs782653042
rs782653042
FKBP10
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		0.700 GeneticVariation UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288

2011