rs1372862248, GPT2

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 16 46926991 missense variant G/A snv 0.010 1.000 1 2018 2018
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 1.000 0.120 16 46926991 missense variant G/A snv 0.010 1.000 1 2018 2018