MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy ×
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: rs730880014
rs730880014 		1.000 0.040 20 40688690 missense variant G/A snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.810 1.000 1 2017 2017
dbSNP: rs387907004
rs387907004 		1.000 0.040 20 40688667 missense variant T/G snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.800 1.000 1 2012 2012
dbSNP: rs387907005
rs387907005 		1.000 0.040 20 40688643 missense variant A/C snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.800 1.000 1 2012 2012
dbSNP: rs387907006
rs387907006 		1.000 0.040 20 40688642 missense variant G/A snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.800 1.000 1 2012 2012
dbSNP: rs387907007
rs387907007 		1.000 0.040 20 40688640 missense variant G/A snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.800 1.000 1 2012 2012
dbSNP: rs387907008
rs387907008 		1.000 0.040 20 40688639 missense variant G/A snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1555826433
rs1555826433 		1.000 0.040 20 40688645 missense variant G/A snv
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012