FANCB, FA complementation group B, 2187

N. diseases: 278; N. variants: 6
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B ×
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: rs1569083679
rs1569083679 		1.000 0.120 X 14845115 frameshift variant A/- del
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2004 2008
dbSNP: rs1569083185
rs1569083185 		1.000 0.120 X 14844518 stop gained A/C snv
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1569083464
rs1569083464 		1.000 0.120 X 14844925 frameshift variant CT/- delins
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1569085810
rs1569085810 		1.000 0.120 X 14850500 splice region variant C/T snv
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2006 2006