rs200478425, G6PC3

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.
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05 0.010 1.000 1 2013 2013
Myelokathexis
CUI: C0272173
Disease: Myelokathexis
1 1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05 0.010 1.000 1 2010 2010