rs1131691668, ASXL3

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.
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.925 0.080 18 33742954 stop gained C/T snv 0.700 0
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.925 0.080 18 33742954 stop gained C/T snv 0.700 0
BAINBRIDGE-ROPERS SYNDROME
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
17 0.925 0.080 18 33742954 stop gained C/T snv 0.700 0