rs104894419, LIG4

N. diseases: 8
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.
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 0
Decreased antibody level in blood
CUI: C4048270
Disease: Decreased antibody level in blood
5 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
16 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
9 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 9 2001 2016
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
13 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 8 2001 2016