rs1554505381, KMT2C

N. diseases: 1
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.
KLEEFSTRA SYNDROME 2
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
6 1.000 7 152183023 frameshift variant G/- delins 0.700 0