rs1060499602, ASXL3

N. diseases: 1
Source: CLINVAR ×
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.
BAINBRIDGE-ROPERS SYNDROME
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
17 1.000 18 33738875 stop gained C/T snv 0.700 0