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: rs121917735
rs121917735 		0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 1.000 3 2002 2014
dbSNP: rs121917736
rs121917736 		0.851 0.200 16 79599013 missense variant T/C snv
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		0.800 1.000 3 2002 2014
dbSNP: rs17797882
rs17797882 		1.000 0.080 16 79373021 regulatory region variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2011 2013
dbSNP: rs587777127
rs587777127 		1.000 16 79211665 stop gained G/C;T snv 4.0E-06; 4.0E-06
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 1.000 2 2014 2014
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: rs11150152
rs11150152 		16 79315586 regulatory region variant T/C snv 0.59
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs30388
rs30388 		0.925 16 79580219 regulatory region variant T/C;G snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2015 2015
dbSNP: rs30388
rs30388 		0.925 16 79580219 regulatory region variant T/C;G snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2015 2015
dbSNP: rs30388
rs30388 		0.925 16 79580219 regulatory region variant T/C;G snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2015 2015
dbSNP: rs30388
rs30388 		0.925 16 79580219 regulatory region variant T/C;G snv
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.700 1.000 1 2015 2015
dbSNP: rs30388
rs30388 		0.925 16 79580219 regulatory region variant T/C;G snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2015 2015
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: 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: 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
dbSNP: rs8054578
rs8054578 		1.000 0.040 16 79282918 intergenic variant A/G snv 0.74
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
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