rs137852725, 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
CUI: C4551771
Disease: Kleefstra syndrome
11 1.000 0.160 9 137814479 stop gained C/T snv 0.700 0