rs1555742500, ASXL3

N. diseases: 3
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 18 33739379 frameshift variant GACA/- delins 0.700 1.000 9 2011 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 18 33739379 frameshift variant GACA/- delins 0.700 1.000 9 2011 2017
BAINBRIDGE-ROPERS SYNDROME
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
17 0.925 18 33739379 frameshift variant GACA/- delins 0.700 0