BMP1, bone morphogenetic protein 1, 649

N. diseases: 121; N. variants: 17
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII ×
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: rs318240762
rs318240762 		0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 1.000 3 2012 2015
dbSNP: rs398122891
rs398122891 		1.000 8 22177868 missense variant C/G snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 1.000 3 2012 2015
dbSNP: rs786205219
rs786205219 		1.000 8 22177929 missense variant A/G snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 0
dbSNP: rs786205217
rs786205217 		1.000 8 22201444 3 prime UTR variant T/C snv 7.0E-06
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.700 0
dbSNP: rs786205218
rs786205218 		1.000 8 22197420 missense variant G/C snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.700 0
dbSNP: rs786205220
rs786205220 		1.000 8 22194174 missense variant G/T snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.700 0