MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
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
dbSNP: rs879255275
rs879255275 		0.925 0.120 20 40688048 frameshift variant T/- delins
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255275
rs879255275 		0.925 0.120 20 40688048 frameshift variant T/- delins
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255276
rs879255276 		0.882 0.120 20 40688411 frameshift variant C/- delins
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255276
rs879255276 		0.882 0.120 20 40688411 frameshift variant C/- delins
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255277
rs879255277 		0.882 0.120 20 40688207 frameshift variant T/- del
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255277
rs879255277 		0.882 0.120 20 40688207 frameshift variant T/- del
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255276
rs879255276 		0.882 0.120 20 40688411 frameshift variant C/- delins
CUI: C4310873
Disease: DUANE RETRACTION SYNDROME 3
DUANE RETRACTION SYNDROME 3 		0.700 0
dbSNP: rs879255277
rs879255277 		0.882 0.120 20 40688207 frameshift variant T/- del
CUI: C4310873
Disease: DUANE RETRACTION SYNDROME 3
DUANE RETRACTION SYNDROME 3 		0.700 0