Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs765576835
rs765576835
FANCD2
0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.020 1.000 2 2007 2012
dbSNP: rs765576835
rs765576835
FANCD2
0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.020 1.000 2 2007 2012
dbSNP: rs765576835
rs765576835
FANCD2
0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs765576835
rs765576835
FANCD2
0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 1.000 1 2007 2007