LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Dysmorphic features ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894419
rs104894419 		0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2001 2016
dbSNP: rs780879476
rs780879476 		0.925 0.160 13 108210656 frameshift variant A/- delins 5.6E-05 5.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2001 2016