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: rs786202760
rs786202760
0.925 0.200 17 61776557 stop gained C/A;G;T snv 4.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2005 2010