rs324148, SLC29A1

N. diseases: 3
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.
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.882 0.280 6 44228841 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.882 0.280 6 44228841 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014
Opitz GBBB Syndrome, X-Linked
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
24 0.882 0.280 6 44228841 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014