SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET ×
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: 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: 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: 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: 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: 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
dbSNP: rs80338722
rs80338722 		0.882 0.120 7 96184276 splice donor variant C/T snv 4.8E-05 1.4E-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: rs80338725
rs80338725 		0.882 0.120 7 96121928 frameshift variant -/CCCGGGCAGCCACCTGTAATCTC delins 8.8E-05 1.4E-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: rs80338726
rs80338726 		0.882 0.120 7 96121696 stop gained -/T;TTT delins 2.8E-05; 2.4E-05; 8.0E-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: rs6957975
rs6957975 		1.000 0.120 7 96234796 splice region variant T/C snv 0.62 0.67
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 0.010 1.000 1 2012 2012