FANCG, FA complementation group G, 2189

N. diseases: 132; N. variants: 19
Disease: fanconi anemia complementation group g ×
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: rs121434425
rs121434425 		0.925 0.120 9 35078338 stop gained C/A snv 1.2E-05 1.4E-05
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1998 2000
dbSNP: rs757418016
rs757418016 		1.000 0.120 9 35075740 frameshift variant G/-;GG delins
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587776640
rs587776640 		1.000 0.120 9 35077267 frameshift variant GGTAGGC/- delins 8.0E-06
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2005 2005
dbSNP: rs769547477
rs769547477 		0.925 0.120 9 35076030 splice acceptor variant T/C snv 1.6E-05
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs121434426
rs121434426 		0.882 0.120 9 35076442 stop gained G/A snv 4.0E-06
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs149616199
rs149616199 		0.925 0.120 9 35075278 splice donor variant C/A;G snv 2.0E-05
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs200479612
rs200479612 		0.925 0.120 9 35078604 splice donor variant C/G;T snv 2.4E-05; 4.0E-06
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397507560
rs397507560 		0.925 0.120 9 35074173 frameshift variant ACGGATCCAG/- delins 4.2E-05
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397507561
rs397507561 		0.925 0.120 9 35076585 splice acceptor variant T/C snv
CUI: C3469527
Disease: fanconi anemia complementation group g
fanconi anemia complementation group g 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0