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: rs121918163
rs121918163
POLG ; FANCI
1 1.000 0.120 15 89315319 missense variant G/A snv 0.800 1.000 3 2007 2007
dbSNP: rs140404896
rs140404896
FANCI
3 1.000 0.120 15 89303898 missense variant G/A snv 1.2E-04 1.1E-04 0.700 1.000 3 2012 2016
dbSNP: rs748000458
rs748000458
FANCI
1 1.000 0.120 15 89294967 stop gained G/T snv 6.3E-06 1.4E-05 0.700 1.000 3 2007 2011
dbSNP: rs762128147
rs762128147
FANCI
1 1.000 0.120 15 89260711 splice acceptor variant A/G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs375656231
rs375656231
FANCI
2 0.925 0.120 15 89293963 stop gained A/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs62020347
rs62020347
FANCI
2 0.925 0.200 15 89260719 missense variant C/T snv 5.3E-02 4.7E-02 0.700 0
dbSNP: rs769248873
rs769248873
FANCI
2 0.925 0.120 15 89281249 stop gained T/A snv 2.8E-05 4.9E-05 0.700 0