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: rs747253294
rs747253294
VRK2 ; FANCL
2 0.925 0.120 2 58161533 inframe deletion ATA/- del 3.3E-04 0.700 1.000 5 2009 2016
dbSNP: rs759217526
rs759217526
VRK2 ; FANCL
1 1.000 2 58159793 splice acceptor variant -/AATT delins 3.0E-03 3.0E-03 0.700 0
dbSNP: rs869320684
rs869320684
FANCL
1 1.000 2 58226733 frameshift variant G/- del 0.700 0
dbSNP: rs869320685
rs869320685
FANCL
1 1.000 2 58204171 frameshift variant A/- delins 0.700 0