rs1057517992, 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.
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
253 0.925 0.240 12 49031861 stop gained G/A snv 0.700 0
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.925 0.240 12 49031861 stop gained G/A snv 0.700 0