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: rs574034197
rs574034197 		0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05
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 1991 2012
dbSNP: rs745882980
rs745882980 		0.925 0.120 16 89738944 missense variant G/A snv 1.2E-05 7.0E-06
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 2005 2018
dbSNP: rs755546887
rs755546887 		0.925 0.120 16 89761950 missense variant G/A;T snv 2.4E-05; 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 7 2005 2016
dbSNP: rs759877008
rs759877008 		0.925 0.120 16 89805275 splice region variant C/A;T snv 1.6E-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 0.700 1.000 7 1999 2018
dbSNP: rs397507552
rs397507552 		0.925 0.120 16 89792034 frameshift variant CAAC/- delins 7.2E-05 5.6E-05
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 6 1996 2014
dbSNP: rs755922289
rs755922289 		0.925 0.120 16 89761949 missense variant C/A;T snv 5.2E-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 0.700 1.000 6 2000 2015
dbSNP: rs755922289
rs755922289 		0.925 0.120 16 89761949 missense variant C/A;T snv 5.2E-05
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 6 2002 2016
dbSNP: rs761341952
rs761341952 		0.925 0.120 16 89816551 stop gained C/T snv 1.2E-04 4.2E-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 0.700 1.000 6 1997 2014
dbSNP: rs769479800
rs769479800 		0.925 0.120 16 89816614 start lost A/G;T snv 4.1E-05; 8.3E-06
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 6 1999 2014
dbSNP: rs1060501879
rs1060501879 		1.000 0.120 16 89791458 missense variant C/A;T snv
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 5 1999 2009
dbSNP: rs745882980
rs745882980 		0.925 0.120 16 89738944 missense variant G/A snv 1.2E-05 7.0E-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 5 2005 2017
dbSNP: rs755546887
rs755546887 		0.925 0.120 16 89761950 missense variant G/A;T snv 2.4E-05; 4.0E-06
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 5 2008 2016
dbSNP: rs761341952
rs761341952 		0.925 0.120 16 89816551 stop gained C/T snv 1.2E-04 4.2E-05
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 5 1998 2018
dbSNP: rs772359099
rs772359099 		0.925 0.120 16 89795922 frameshift variant GAGT/- delins 3.6E-05 3.5E-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 0.700 1.000 5 1997 2014
dbSNP: rs776969626
rs776969626 		1.000 0.120 16 89739175 frameshift variant TG/- delins
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 5 2011 2016
dbSNP: rs1173704265
rs1173704265 		1.000 0.120 16 89767208 missense variant A/G snv 7.0E-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 4 1997 2012
dbSNP: rs1283284704
rs1283284704 		1.000 0.120 16 89761970 stop gained -/TCAGGTTGAATTTCCAGCT delins 4.0E-06 2.1E-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 0.700 1.000 4 1997 2015
dbSNP: rs1302083447
rs1302083447 		0.925 0.120 16 89764930 missense variant T/G snv 7.0E-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 4 2005 2018
dbSNP: rs1490352414
rs1490352414 		1.000 0.120 16 89770179 missense variant A/G snv 9.5E-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 4 2005 2012
dbSNP: rs182657062
rs182657062 		1.000 0.120 16 89739517 missense variant G/A snv 1.3E-05 1.4E-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 0.700 1.000 4 1999 2013
dbSNP: rs745568821
rs745568821 		0.925 0.120 16 89761961 stop gained G/C snv 4.0E-06; 8.0E-06 7.0E-06
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 4 1997 2018
dbSNP: rs752160950
rs752160950 		0.925 0.120 16 89767185 stop gained G/A;C snv 1.2E-05; 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 4 2005 2015
dbSNP: rs753063086
rs753063086 		0.925 0.120 16 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05
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 4 1999 2009
dbSNP: rs753980264
rs753980264 		1.000 0.120 16 89778948 stop gained G/A;C snv 8.0E-06 8.4E-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 0.700 1.000 4 1999 2015
dbSNP: rs762526878
rs762526878 		1.000 0.120 16 89771778 missense variant A/G snv 8.0E-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 4 2005 2014