rs786203999, 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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
CUI: C4225388
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
2 1.000 16 46906858 missense variant C/G snv 0.800 1.000 1 2015 2015
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 1.000 16 46906858 missense variant C/G snv 0.010 1.000 1 2015 2015