FANCF, FA complementation group F, 2188

N. diseases: 153; N. variants: 7
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: rs745495865
rs745495865 		1.000 0.120 11 22625809 start lost A/C;G 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 1 2004 2004
dbSNP: rs587778340
rs587778340 		0.925 0.120 11 22625326 frameshift variant AG/- delins 1.3E-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 0
dbSNP: rs730880277
rs730880277 		0.925 0.120 11 22625559 frameshift variant AGTTCGCTAATCCCGGAACTGGA/- 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