FANCL, FA complementation group L, 55120

N. diseases: 137; N. variants: 16
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: rs750871999
rs750871999 		1.000 0.120 2 58160148 frameshift variant CT/-;CTCT delins 7.6E-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 4 2003 2014
dbSNP: rs747253294
rs747253294 		0.925 0.120 2 58161533 inframe deletion ATA/- del 3.3E-04
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 2009 2016
dbSNP: rs1205006300
rs1205006300 		1.000 0.120 2 58229813 splice donor variant C/A snv 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 1.000 2 2009 2013
dbSNP: rs144729980
rs144729980 		1.000 0.120 2 58226727 splice donor variant C/G;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 2013
dbSNP: rs1558727300
rs1558727300 		1.000 0.120 2 58160103 splice region variant CTTAC/- 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 2009 2013
dbSNP: rs1558737575
rs1558737575 		1.000 0.120 2 58163519 splice acceptor variant T/C 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 2009 2013
dbSNP: rs1553435610
rs1553435610 		1.000 0.120 2 58163447 frameshift variant AGAA/- 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: rs753105795
rs753105795 		1.000 0.120 2 58229819 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 0
dbSNP: rs761039364
rs761039364 		1.000 0.120 2 58241274 frameshift variant G/-;GG delins 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: rs878855046
rs878855046 		1.000 0.120 2 58204163 frameshift variant ACCAGAAGCATCT/- 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: rs771218574
rs771218574 		0.925 0.120 2 58241304 missense variant T/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 0.010 1.000 1 2004 2004