rs797044806, XYLT2

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 17 50354465 frameshift variant -/C delins 0.700 1.000 4 2015 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 17 50354465 frameshift variant -/C delins 0.700 1.000 4 2015 2018
Spondylo-ocular syndrome
CUI: C4225412
Disease: Spondylo-ocular syndrome
5 0.925 17 50354465 frameshift variant -/C delins 0.700 0