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: 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: 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: rs747892390
rs747892390 		0.925 0.120 16 89739218 frameshift variant TACATGTCCACAGC/- del 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 0
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: rs1432988639
rs1432988639 		0.925 0.120 16 89740803 splice donor variant C/A;G;T snv 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 0
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: rs1374769712
rs1374769712 		1.000 0.120 16 89742930 frameshift variant -/A delins 1.4E-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 0
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: rs1380850249
rs1380850249 		1.000 0.120 16 89744978 inframe deletion CTT/- 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 1 2008 2008
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: 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: rs1567601557
rs1567601557 		1.000 0.120 16 89746830 splice donor variant C/G 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: rs786204246
rs786204246 		1.000 0.120 16 89746834 inframe deletion AAG/- 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 0
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: rs149277003
rs149277003 		0.925 0.120 16 89746890 missense variant T/C snv 2.5E-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 0
dbSNP: rs777825824
rs777825824 		1.000 0.120 16 89748691 stop gained C/A;T snv 1.6E-05 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 0
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: 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: 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: rs1555538740
rs1555538740 		1.000 0.120 16 89749884 stop gained C/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587783028
rs587783028 		0.925 0.120 16 89752137 splice donor variant C/A;T 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 0
dbSNP: rs1555540076
rs1555540076 		0.925 0.120 16 89752223 splice acceptor variant C/G 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: 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: 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: 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