MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
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: rs71398138
rs71398138 		16 79204666 non coding transcript exon variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs727502768
rs727502768 		0.925 0.240 16 79599697 missense variant G/C snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs786205221
rs786205221 		0.851 0.200 16 79599008 missense variant G/T snv
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs786205221
rs786205221 		0.851 0.200 16 79599008 missense variant G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs864309678
rs864309678 		1.000 0.200 16 79599084 missense variant C/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309692
rs864309692 		1.000 0.200 16 79598988 synonymous variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309695
rs864309695 		1.000 0.200 16 79599023 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057518878
rs1057518878 		1.000 0.200 16 79599715 missense variant G/C snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1481963503
rs1481963503 		0.925 0.240 16 79598998 missense variant G/A snv
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.700 0
dbSNP: rs1481963503
rs1481963503 		0.925 0.240 16 79598998 missense variant G/A snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs727502766
rs727502766 		1.000 0.240 16 79599742 missense variant G/A snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs727502767
rs727502767 		1.000 0.240 16 79599731 missense variant T/C snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs727502768
rs727502768 		0.925 0.240 16 79599697 missense variant G/C snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs727502769
rs727502769 		1.000 0.240 16 79599730 missense variant G/A snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs727502770
rs727502770 		1.000 0.240 16 79599727 missense variant G/A;T snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs727502771
rs727502771 		1.000 0.240 16 79599718 missense variant G/C snv
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs786205221
rs786205221 		0.851 0.200 16 79599008 missense variant G/T snv
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.700 0
dbSNP: rs786205222
rs786205222 		1.000 16 79598995 missense variant T/G snv
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.700 0
dbSNP: rs4547347
rs4547347 		16 79415630 intergenic variant T/C snv 1.0E-02
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs73569323
rs73569323 		1.000 0.080 16 79211868 missense variant C/T snv 4.7E-02 7.9E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs383362
rs383362 		0.882 0.080 16 79211923 missense variant G/T snv 0.44 0.46
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs383362
rs383362 		0.882 0.080 16 79211923 missense variant G/T snv 0.44 0.46
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs383362
rs383362 		0.882 0.080 16 79211923 missense variant G/T snv 0.44 0.46
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs383362
rs383362 		0.882 0.080 16 79211923 missense variant G/T snv 0.44 0.46
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs8045027
rs8045027 		16 79354312 intergenic variant G/A snv 0.47
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019