FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
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: rs1057516430
rs1057516430 		0.925 0.120 16 89811060 stop gained G/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1279983084
rs1279983084 		16 89752163 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs1279983084
rs1279983084 		16 89752163 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs1374262828
rs1374262828 		1.000 0.160 16 89758685 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs139235751
rs139235751 		0.925 0.120 16 89775768 missense variant C/G;T snv 2.4E-03; 2.0E-05
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs139235751
rs139235751 		0.925 0.120 16 89775768 missense variant C/G;T snv 2.4E-03; 2.0E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17227424
rs17227424 		16 89738216 missense variant G/A;C snv 1.3E-05; 3.6E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs17233497
rs17233497 		0.925 0.120 16 89748744 missense variant G/A snv 5.1E-02 5.2E-02
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2239359
rs2239359 		16 89783072 missense variant C/T snv 0.50 0.51
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2239359
rs2239359 		16 89783072 missense variant C/T snv 0.50 0.51
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs75570604
rs75570604 		0.851 0.080 16 89780269 intron variant G/C snv 4.7E-02
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs761725308
rs761725308 		1.000 0.120 16 89770168 stop gained G/A snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs778093769
rs778093769 		1.000 0.120 16 89778947 missense variant C/T snv 1.5E-04 2.8E-05
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs878853666
rs878853666 		0.882 0.200 16 89803299 missense variant G/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs878853666
rs878853666 		0.882 0.200 16 89803299 missense variant G/A snv
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs878853666
rs878853666 		0.882 0.200 16 89803299 missense variant G/A snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs878853666
rs878853666 		0.882 0.200 16 89803299 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs878853665
rs878853665 		1.000 0.120 16 89740024 missense variant A/G snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 11 1997 2009
dbSNP: rs1429943036
rs1429943036 		1.000 0.120 16 89749805 missense variant C/A;T snv 4.0E-06
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2008
dbSNP: rs1555533300
rs1555533300 		1.000 0.120 16 89739220 missense variant C/T snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2008
dbSNP: rs1555533313
rs1555533313 		1.000 0.120 16 89739225 missense variant C/A snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2008
dbSNP: rs1555534579
rs1555534579 		1.000 0.120 16 89740848 missense variant A/G snv
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2008
dbSNP: rs374030577
rs374030577 		1.000 0.120 16 89767215 missense variant A/C;T snv 4.0E-06
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2008
dbSNP: rs76275444
rs76275444 		1.000 0.120 16 89816592 missense variant G/A;C snv 5.0E-03
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 1997 2008
dbSNP: rs1555536446
rs1555536446 		1.000 0.120 16 89745063 inframe deletion CAC/- delins
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 7 1997 2015