Gene: FANCD2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917787
rs121917787
FANCD2
2 0.925 0.120 3 10043065 missense variant C/T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2001 2007
dbSNP: rs943009372
rs943009372
FANCD2
1 1.000 0.120 3 10036340 splice donor variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2007 2013
dbSNP: rs766567785
rs766567785
FANCD2
1 1.000 0.120 3 10067267 missense variant G/A snv 1.3E-04 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs1289665675
rs1289665675
FANCD2
1 1.000 0.120 3 10067310 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs1553607671
rs1553607671
FANCD2
1 1.000 0.120 3 10039339 frameshift variant -/A delins 0.700 0
dbSNP: rs765576835
rs765576835
FANCD2
4 0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012