rs1064794254, UPF3B

N. diseases: 6
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.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
Mental Retardation, X-Linked, Syndromic 14
CUI: C1970822
Disease: Mental Retardation, X-Linked, Syndromic 14
5 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012