rs377619533, ASXL3

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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
Decreased activity of mitochondrial complex I
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
3 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0