rs1047322213, PQBP1

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.
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 0.120 X 48902470 missense variant G/A snv 0.010 1.000 1 2018 2018
Partial agenesis of corpus callosum
CUI: C0431368
Disease: Partial agenesis of corpus callosum
1 1.000 0.120 X 48902470 missense variant G/A snv 0.010 1.000 1 2018 2018