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: rs80338794
rs80338794
0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.870 1.000 14 1999 2011
dbSNP: rs80338795
rs80338795
0.882 0.120 6 73641810 stop gained T/A;C snv 3.2E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 8 1999 2011
dbSNP: rs386833990
rs386833990
0.925 0.120 6 73644407 splice region variant C/T snv 1.6E-05 2.1E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 4 2004 2017
dbSNP: rs146095590
rs146095590
1.000 0.120 6 73610399 splice donor variant C/A;T snv 8.0E-06
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1999 2005
dbSNP: rs201284672
rs201284672
0.925 0.120 6 73621864 stop gained A/C snv 8.4E-05 1.3E-04
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2000 2014
dbSNP: rs386833994
rs386833994
1.000 0.120 6 73635385 inframe deletion TTTCTTAATGATGAA/- delins 4.0E-05 2.8E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2000 2005
dbSNP: rs727504156
rs727504156
1.000 0.120 6 73638492 frameshift variant G/- del 4.8E-05 6.3E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1999 2005
dbSNP: rs386833988
rs386833988
1.000 0.120 6 73610520 frameshift variant AC/- del 5.2E-05 7.0E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2000 2005
dbSNP: rs1057516910
rs1057516910
1.000 0.120 6 73615410 stop gained C/T snv 4.0E-06 1.4E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2005 2015
dbSNP: rs386833992
rs386833992
1.000 0.120 6 73641709 frameshift variant T/- del 1.6E-05 2.1E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2003 2006
dbSNP: rs794729653
rs794729653
0.925 0.120 6 73641807 frameshift variant T/- delins
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1999 2005
dbSNP: rs1554164096
rs1554164096
1.000 0.120 6 73638501 splice acceptor variant T/C snv
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs386833987
rs386833987
1.000 0.120 6 73615418 frameshift variant TA/- del 7.0E-06
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs386833993
rs386833993
1.000 0.120 6 73635482 stop gained C/T snv 5.0E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs769235753
rs769235753
0.925 0.120 6 73644582 missense variant C/T snv 1.2E-05 2.1E-05
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057516257
rs1057516257
1.000 0.120 6 73641832 stop gained A/T snv
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516419
rs1057516419
1.000 0.120 6 73641793 frameshift variant A/- delins
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516505
rs1057516505
1.000 0.120 6 73644482 frameshift variant GT/- delins
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516528
rs1057516528
1.000 0.120 6 73641926 splice acceptor variant T/G snv
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516549
rs1057516549
1.000 0.120 6 73644494 frameshift variant T/- del 4.0E-06
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516601
rs1057516601
1.000 0.120 6 73621873 stop gained C/T snv
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516862
rs1057516862
1.000 0.120 6 73636628 frameshift variant G/- del
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516951
rs1057516951
1.000 0.120 6 73600350 splice donor variant C/T snv
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517028
rs1057517028
1.000 0.120 6 73635381 splice donor variant C/T snv 4.0E-06
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517111
rs1057517111
1.000 0.120 6 73610532 frameshift variant G/- del
Sialic Acid Storage Disease, Finnish Type (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0