FANCE, FA complementation group E, 2178

N. diseases: 144; N. variants: 4
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: rs763151358
rs763151358 		1.000 0.080 6 35456096 missense variant C/T snv 6.0E-05 7.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121434505
rs121434505 		1.000 0.120 6 35455853 stop gained C/T snv 1.2E-05
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121434506
rs121434506 		1.000 0.120 6 35455919 stop gained C/A;T snv 4.0E-06
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs878854342
rs878854342 		1.000 0.120 6 35459323 splice region variant G/A snv 7.0E-06
CUI: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0