rs80338701
|
|
0.776 |
0.360 |
16 |
8811088 |
stop gained
|
C/A;T
|
snv
|
4.4E-05;
5.4E-06
|
|
Muscle hypotonia
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs80338708
|
|
1.000 |
0.080 |
16 |
8847794 |
missense variant
|
C/G;T
|
snv
|
1.3E-04;
4.4E-05
|
|
Muscle hypotonia
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs80338708
|
|
1.000 |
0.080 |
16 |
8847794 |
missense variant
|
C/G;T
|
snv
|
1.3E-04;
4.4E-05
|
|
Movement Disorders
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs141498002
|
|
0.827 |
0.280 |
16 |
8811099 |
stop gained
|
G/A;T
|
snv
|
1.1E-04;
5.2E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
10 |
1997 |
2015 |
rs398123309
|
|
1.000 |
0.080 |
16 |
8813090 |
missense variant
|
G/A;C
|
snv
|
4.0E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
1.000 |
9 |
1998 |
2017 |
rs80338708
|
|
1.000 |
0.080 |
16 |
8847794 |
missense variant
|
C/G;T
|
snv
|
1.3E-04;
4.4E-05
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
9 |
1997 |
2016 |
rs150577656
|
|
1.000 |
0.080 |
16 |
8811648 |
stop gained
|
T/A;C;G
|
snv
|
1.6E-05;
4.0E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
7 |
1997 |
2014 |
rs80338700
|
|
0.851 |
0.200 |
16 |
8806398 |
missense variant
|
C/G;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
6 |
1997 |
2015 |
rs80338701
|
|
0.776 |
0.360 |
16 |
8811088 |
stop gained
|
C/A;T
|
snv
|
4.4E-05;
5.4E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.820 |
1.000 |
6 |
1997 |
2013 |
rs80338707
|
|
0.925 |
0.080 |
16 |
8847775 |
missense variant
|
G/A;C
|
snv
|
6.8E-05;
4.0E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
6 |
1997 |
2016 |
rs398123312
|
|
0.925 |
0.080 |
16 |
8801827 |
missense variant
|
TA/GC
|
mnv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
5 |
1997 |
2015 |
rs769648248
|
|
1.000 |
0.080 |
16 |
8804793 |
missense variant
|
C/G;T
|
snv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
4 |
1997 |
2012 |
rs104894525
|
|
1.000 |
0.080 |
16 |
8811116 |
missense variant
|
G/A;T
|
snv
|
1.0E-05;
5.0E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
3 |
1997 |
2015 |
rs104894534
|
|
1.000 |
0.080 |
16 |
8801863 |
missense variant
|
T/C
|
snv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
3 |
1997 |
2015 |
rs80338703
|
|
1.000 |
0.080 |
16 |
8811146 |
missense variant
|
G/A
|
snv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.820 |
1.000 |
3 |
1997 |
2007 |
rs1555448899
|
|
1.000 |
0.080 |
16 |
8801836 |
stop gained
|
T/A
|
snv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
1.000 |
2 |
2008 |
2015 |
rs1057516323
|
|
1.000 |
0.080 |
16 |
8811700 |
frameshift variant
|
-/A
|
delins
|
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1274794195
|
|
1.000 |
0.080 |
16 |
8811636 |
splice acceptor variant
|
GAAA/-
|
delins
|
4.0E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1339004837
|
|
1.000 |
0.080 |
16 |
8804778 |
frameshift variant
|
T/-
|
del
|
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555449314
|
|
1.000 |
0.080 |
16 |
8806384 |
frameshift variant
|
G/-
|
del
|
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs199562225
|
|
1.000 |
0.080 |
16 |
8813047 |
stop gained
|
C/T
|
snv
|
2.4E-05
|
|
Congenital disorder of glycosylation type 1A
|
0.720 |
1.000 |
1 |
2003 |
2015 |
rs104894530
|
|
1.000 |
0.080 |
16 |
8811080 |
missense variant
|
G/C
|
snv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
0 |
1997 |
2007 |
rs104894531
|
|
1.000 |
0.080 |
16 |
8847753 |
missense variant
|
C/G;T
|
snv
|
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
0 |
1997 |
2007 |
rs104894532
|
|
1.000 |
0.080 |
16 |
8797908 |
missense variant
|
G/A;T
|
snv
|
4.1E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.800 |
1.000 |
0 |
1997 |
2007 |
rs104894533
|
|
0.925 |
0.080 |
16 |
8801827 |
missense variant
|
T/G
|
snv
|
8.0E-06
|
|
Congenital disorder of glycosylation type 1A
|
0.700 |
|
0 |
|
|