rs780879476, LIG4

N. diseases: 2
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.160 13 108210656 frameshift variant A/- delins 5.6E-05 5.6E-05 0.700 1.000 9 2001 2016
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
13 0.925 0.160 13 108210656 frameshift variant A/- delins 5.6E-05 5.6E-05 0.700 1.000 6 2001 2016