rs886039773, SON

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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 1.000 1 2016 2016
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 1.000 1 2016 2016
Zhu-Tokita-Takenouchi-Kim syndrome
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
20 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 0