FANCI, FA complementation group I, 55215

N. diseases: 147; N. variants: 30
Disease: Alpers Syndrome (disorder) ×
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: rs781256643
rs781256643 		1.000 0.080 15 89317379 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0