rs104894495
|
1.000 |
0.080 |
15 |
74892728 |
missense variant |
T/C
|
snv
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2002 |
rs786204593
|
1.000 |
0.080 |
15 |
74891395 |
frameshift variant |
-/C
|
delins
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2008 |
rs1127796
|
|
|
15 |
74900663 |
3 prime UTR variant |
T/C
|
snv
|
|
0.38
|
Personality Traits
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1057516424
|
1.000 |
0.080 |
15 |
74893302 |
stop gained |
A/T
|
snv
|
|
7.0E-06
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516466
|
1.000 |
0.080 |
15 |
74890630 |
frameshift variant |
C/-
|
del
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057516573
|
1.000 |
0.080 |
15 |
74891378 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057517115
|
1.000 |
0.080 |
15 |
74896220 |
frameshift variant |
G/-
|
delins
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1452559752
|
1.000 |
0.080 |
15 |
74890086 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555478015
|
1.000 |
0.080 |
15 |
74890072 |
start lost |
CATG/-
|
delins
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555478118
|
1.000 |
0.080 |
15 |
74890596 |
frameshift variant |
TGTTGGCCAGCAGTGATCCACTGGC/-
|
delins
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555478333
|
1.000 |
0.080 |
15 |
74891580 |
splice donor variant |
G/A
|
snv
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555478582
|
1.000 |
0.080 |
15 |
74893184 |
frameshift variant |
C/-
|
delins
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555478606
|
1.000 |
0.080 |
15 |
74893279 |
frameshift variant |
T/-
|
del
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555479227
|
1.000 |
0.080 |
15 |
74896283 |
frameshift variant |
AT/-
|
del
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555479341
|
1.000 |
0.080 |
15 |
74897009 |
splice acceptor variant |
A/-
|
del
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555479351
|
1.000 |
0.080 |
15 |
74897045 |
frameshift variant |
-/G
|
delins
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs863225086
|
1.000 |
0.080 |
15 |
74897663 |
missense variant |
A/G
|
snv
|
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs749911553
|
1.000 |
0.080 |
15 |
74896208 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs764835081
|
1.000 |
0.080 |
15 |
74891386 |
start lost |
T/C
|
snv
|
4.0E-06
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1998 |
2002 |
rs1394866894
|
1.000 |
0.080 |
15 |
74896326 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1276918786
|
|
|
15 |
74897133 |
frameshift variant |
CT/-
|
delins
|
8.0E-06
|
|
Congenital Disorders of Glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs863225087
|
1.000 |
0.080 |
15 |
74897711 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2002 |
rs766458792
|
1.000 |
0.080 |
15 |
74892770 |
missense variant |
G/A;T
|
snv
|
2.4E-05;
8.0E-06
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1998 |
2002 |
rs1057516550
|
1.000 |
0.080 |
15 |
74892804 |
splice donor variant |
T/-
|
del
|
8.0E-06
|
2.1E-05
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs887249336
|
1.000 |
0.080 |
15 |
74892701 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Congenital disorder of glycosylation type 1B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|