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: rs121917786
rs121917786
FANCD2 ; FANCD2OS
1 1.000 0.120 3 10090315 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.800 1.000 1 2001 2001
dbSNP: rs121917787
rs121917787
FANCD2
2 0.925 0.120 3 10043065 missense variant C/T snv 8.0E-06; 4.0E-06 0.800 1.000 1 2001 2001
dbSNP: rs764507146
rs764507146
FANCD2
1 1.000 0.120 3 10034797 missense variant A/G snv 1.4E-05 0.700 1.000 1 2001 2001
dbSNP: rs121917788
rs121917788
FANCD2
1 1.000 0.120 3 10043119 stop gained C/T snv 0.700 0
dbSNP: rs1553608812
rs1553608812
FANCD2
1 1.000 0.120 3 10046646 frameshift variant A/- del 0.700 0
dbSNP: rs1559399574
rs1559399574
FANCD2 ; FANCD2OS
1 1.000 0.120 3 10081217 frameshift variant A/- delins 0.700 0
dbSNP: rs869312805
rs869312805
FANCD2
1 1.000 0.120 3 10064801 inframe deletion CCT/- delins 0.700 0