rs1464216639, MAN1B1

N. diseases: 2
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 1.000 9 137106289 stop gained G/A snv 6.1E-06 0.010 1.000 1 2011 2011
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 9 137106289 stop gained G/A snv 6.1E-06 0.010 1.000 1 2011 2011