rs104894421, LIG4

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
13 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.810 1.000 2 2001 2010
leukemia
CUI: C0023418
Disease: leukemia
144 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2004 2004
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2004 2004