FANCG, FA complementation group G, 2189

N. diseases: 132; N. variants: 19
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: rs121434426
rs121434426 		0.882 0.120 9 35076442 stop gained G/A 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 0.710 1.000 3 2003 2015
dbSNP: rs149616199
rs149616199 		0.925 0.120 9 35075278 splice donor variant C/A;G snv 2.0E-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 3 1998 2012
dbSNP: rs769547477
rs769547477 		0.925 0.120 9 35076030 splice acceptor variant T/C snv 1.6E-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 3 2000 2017
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: rs121434425
rs121434425 		0.925 0.120 9 35078338 stop gained C/A snv 1.2E-05 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 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: rs779834525
rs779834525 		1.000 0.120 9 35074489 stop gained G/A;C snv 2.0E-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 2000 2001
dbSNP: rs1060501862
rs1060501862 		1.000 0.120 9 35076970 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 2003 2003
dbSNP: rs397507560
rs397507560 		0.925 0.120 9 35074173 frameshift variant ACGGATCCAG/- delins 4.2E-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 1 2003 2003
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: rs767518932
rs767518932 		1.000 0.120 9 35076871 splice acceptor variant C/G;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 1.000 1 2003 2003
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: rs863224506
rs863224506 		1.000 0.120 9 35079169 frameshift variant -/C delins 1.3E-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 1 2003 2003
dbSNP: rs1209807088
rs1209807088 		1.000 0.120 9 35077096 stop gained G/A snv 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 0
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: rs200479612
rs200479612 		0.925 0.120 9 35078604 splice donor variant C/G;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 0
dbSNP: rs397507559
rs397507559 		1.000 0.120 9 35075706 frameshift variant AAACACCTCA/- delins 6.0E-05 9.0E-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 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
dbSNP: rs397507561
rs397507561 		0.925 0.120 9 35076585 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 0
dbSNP: rs758407400
rs758407400 		1.000 0.080 9 35074158 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs786204205
rs786204205 		1.000 0.120 9 35074384 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: rs886063898
rs886063898 		1.000 0.120 9 35079164 frameshift variant -/A 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