rs80338720, SLC25A13

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.
Adult-onset citrullinemia type 2
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
15 0.882 0.120 7 96189372 frameshift variant ATAC/- delins 0.700 1.000 6 1999 2011
Citrin deficiency
CUI: C1997910
Disease: Citrin deficiency
10 0.882 0.120 7 96189372 frameshift variant ATAC/- delins 0.700 1.000 4 1999 2016
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
13 0.882 0.120 7 96189372 frameshift variant ATAC/- delins 0.700 0