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: 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: 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: 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: 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: 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: rs80338725
rs80338725
0.882 0.120 7 96121928 frameshift variant -/CCCGGGCAGCCACCTGTAATCTC delins 8.8E-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 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: C1997910
Disease: Citrin deficiency
Citrin deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0