rs80338717, 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 96193032 splice region variant C/T snv 1.1E-04 2.8E-05 0.700 1.000 8 2003 2014
Citrin deficiency
CUI: C1997910
Disease: Citrin deficiency
10 0.882 0.120 7 96193032 splice region variant C/T snv 1.1E-04 2.8E-05 0.700 1.000 4 2009 2014
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
13 0.882 0.120 7 96193032 splice region variant C/T snv 1.1E-04 2.8E-05 0.700 0