rs794727688, KMT2D

N. diseases: 2
Disease: Dysmorphic features ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 12 49026431 missense variant G/A snv 0.700 1.000 25 1988 2017