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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|