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: rs786205221
rs786205221 		0.851 0.200 16 79599008 missense variant G/T snv
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2007 2014
dbSNP: rs121917735
rs121917735 		0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121917735
rs121917735 		0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121917736
rs121917736 		0.851 0.200 16 79599013 missense variant T/C snv
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121917736
rs121917736 		0.851 0.200 16 79599013 missense variant T/C 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: rs121917736
rs121917736 		0.851 0.200 16 79599013 missense variant T/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 0.010 1.000 1 2014 2014
dbSNP: rs12828
rs12828 		0.882 0.080 16 79212426 3 prime UTR variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs12828
rs12828 		0.882 0.080 16 79212426 3 prime UTR variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs12828
rs12828 		0.882 0.080 16 79212426 3 prime UTR variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1351213477
rs1351213477 		1.000 0.080 16 79211708 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1351213477
rs1351213477 		1.000 0.080 16 79211708 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1351213477
rs1351213477 		1.000 0.080 16 79211708 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2549513
rs2549513 		0.851 0.080 16 79516830 downstream gene variant C/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2549513
rs2549513 		0.851 0.080 16 79516830 downstream gene variant C/A;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2549513
rs2549513 		0.851 0.080 16 79516830 downstream gene variant C/A;T snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2549513
rs2549513 		0.851 0.080 16 79516830 downstream gene variant C/A;T snv
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
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