rs137852726, EHMT1

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.
Kleefstra syndrome
CUI: C4551771
Disease: Kleefstra syndrome
11 0.925 0.280 9 137814468 missense variant G/A snv 0.700 0
KLEEFSTRA SYNDROME 1
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
25 0.925 0.280 9 137814468 missense variant G/A snv 0.700 0