rs781978013, KMT2A

N. diseases: 3
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 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017