FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: Fanconi Anemia ×
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: 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
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: 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: 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: 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: 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: 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: 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: rs148100796
rs148100796 		0.925 0.120 16 89799197 stop gained C/A snv 6.0E-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 3 1999 2012
dbSNP: rs148473140
rs148473140 		0.925 0.120 16 89791459 missense variant G/A snv 8.0E-06 2.1E-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 3 2004 2017
dbSNP: rs397507553
rs397507553 		0.925 0.120 16 89740842 inframe deletion GAA/- delins 1.0E-04 9.8E-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 3 1997 2011
dbSNP: rs747851434
rs747851434 		0.925 0.120 16 89745026 frameshift variant -/C delins 1.2E-05 2.8E-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 3 1997 2014
dbSNP: rs1166286386
rs1166286386 		1.000 0.120 16 89749781 stop gained C/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 2 1997 2016
dbSNP: rs149797103
rs149797103 		0.925 0.120 16 89744961 splice region variant G/A snv 9.7E-05 7.0E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2008 2018
dbSNP: rs752160950
rs752160950 		0.925 0.120 16 89767185 stop gained G/A;C snv 1.2E-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 2 2005 2009
dbSNP: rs752457319
rs752457319 		1.000 0.120 16 89739460 splice donor variant CCTGTGGGTGGAGGTACC/- 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 2 1999 2009
dbSNP: rs756140957
rs756140957 		1.000 0.120 16 89778942 splice donor variant C/T snv 8.0E-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 2 2009 2018
dbSNP: rs772359099
rs772359099 		0.925 0.120 16 89795922 frameshift variant GAGT/- delins 3.6E-05 3.5E-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 2 1997 2017
dbSNP: rs780825099
rs780825099 		0.925 0.120 16 89765062 missense variant T/G 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 2 2005 2008
dbSNP: rs1060501887
rs1060501887 		0.925 0.120 16 89738881 splice donor variant C/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 1 2009 2009
dbSNP: rs1232171121
rs1232171121 		0.925 0.120 16 89814519 splice donor 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 1 2009 2009
dbSNP: rs1291524243
rs1291524243 		0.925 0.120 16 89799203 stop gained G/A;C snv 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 1 1999 1999