rs1554879411, EHMT1

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 1
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
25 1.000 0.280 9 137777888 frameshift variant -/G delins 0.700 0