rs587783685, KMT2D

N. diseases: 5
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 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
253 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 4 2013 2017