SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338719
rs80338719 		0.882 0.120 7 96191189 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 2 1999 2006
dbSNP: rs80338717
rs80338717 		0.882 0.120 7 96193032 splice region variant C/T snv 1.1E-04 2.8E-05
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2003 2014
dbSNP: rs80338720
rs80338720 		0.882 0.120 7 96189372 frameshift variant ATAC/- delins
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1999 2011
dbSNP: rs80338717
rs80338717 		0.882 0.120 7 96193032 splice region variant C/T snv 1.1E-04 2.8E-05
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2009 2014
dbSNP: rs80338720
rs80338720 		0.882 0.120 7 96189372 frameshift variant ATAC/- delins
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1999 2016
dbSNP: rs80338722
rs80338722 		0.882 0.120 7 96184276 splice donor variant C/T snv 4.8E-05 1.4E-05
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1999 2016
dbSNP: rs80338722
rs80338722 		0.882 0.120 7 96184276 splice donor variant C/T snv 4.8E-05 1.4E-05
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1999 2014
dbSNP: rs80338723
rs80338723 		0.925 0.120 7 96170044 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 1999 2016
dbSNP: rs746155190
rs746155190 		1.000 0.120 7 96189654 stop gained G/A;C snv 4.0E-06
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs80338727
rs80338727 		0.925 0.120 7 96121695 stop gained C/A;T snv
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs879255504
rs879255504 		1.000 0.120 7 96193157 frameshift variant T/- delins
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1060499612
rs1060499612 		0.925 0.120 7 96208837 splice donor variant C/G snv 7.0E-06
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060499612
rs1060499612 		0.925 0.120 7 96208837 splice donor variant C/G snv 7.0E-06
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554335461
rs1554335461 		1.000 0.120 7 96121877 frameshift variant C/- del
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1562774655
rs1562774655 		1.000 0.120 7 96121924 frameshift variant -/CCGGGCAGCCACCTGTAATCTCC delins
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1562831765
rs1562831765 		1.000 0.120 7 96193159 stop gained G/A snv
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs758827458
rs758827458 		1.000 0.120 7 96184391 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs763191789
rs763191789 		1.000 0.120 7 96184990 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338715
rs80338715 		1.000 0.120 7 96321942 splice region variant C/T snv
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338716
rs80338716 		1.000 0.120 7 96193102 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338717
rs80338717 		0.882 0.120 7 96193032 splice region variant C/T snv 1.1E-04 2.8E-05
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338718
rs80338718 		1.000 0.120 7 96193036 splice donor variant C/G snv
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338719
rs80338719 		0.882 0.120 7 96191189 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338719
rs80338719 		0.882 0.120 7 96191189 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338720
rs80338720 		0.882 0.120 7 96189372 frameshift variant ATAC/- delins
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0