rs1565789104, KMT2D

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.
Complement Component C1s Deficiency
CUI: C3151078
Disease: Complement Component C1s Deficiency
2 0.925 0.120 12 49038730 frameshift variant G/- delins 0.700 0
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.925 0.120 12 49038730 frameshift variant G/- delins 0.700 0