rs80338727, SLC25A13

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.
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
13 0.925 0.120 7 96121695 stop gained C/A;T snv 0.700 1.000 1 2002 2002
Adult-onset citrullinemia type 2
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
15 0.925 0.120 7 96121695 stop gained C/A;T snv 0.700 0