rs121434346, SLC6A19

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.
Hartnup Disease
CUI: C0018609
Disease: Hartnup Disease
16 0.882 0.200 5 1212338 missense variant G/A snv 1.6E-03 1.7E-03 0.810 1.000 6 2004 2009
HYPERGLYCINURIA (disorder)
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
3 0.882 0.200 5 1212338 missense variant G/A snv 1.6E-03 1.7E-03 0.700 0
Iminoglycinuria
CUI: C0268654
Disease: Iminoglycinuria
2 0.882 0.200 5 1212338 missense variant G/A snv 1.6E-03 1.7E-03 0.700 0