rs267607076
|
1.000 |
0.080 |
X |
21977126 |
missense variant |
T/G
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
6 |
2003 |
2013 |
rs397515549
|
1.000 |
0.080 |
X |
21971900 |
missense variant |
T/A;C
|
snv
|
5.5E-06
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2003 |
2013 |
rs397515550
|
1.000 |
0.080 |
X |
21971926 |
missense variant |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
6 |
2003 |
2013 |
rs397515553
|
1.000 |
0.080 |
X |
21992634 |
missense variant |
A/C;G
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
6 |
2003 |
2013 |
rs121434610
|
0.882 |
0.120 |
X |
21967312 |
missense variant |
G/A
|
snv
|
|
|
Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121434610
|
0.882 |
0.120 |
X |
21967312 |
missense variant |
G/A
|
snv
|
|
|
Impaired cognition
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121434610
|
0.882 |
0.120 |
X |
21967312 |
missense variant |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs1569351529
|
1.000 |
0.080 |
X |
21978035 |
missense variant |
T/G
|
snv
|
|
|
Smith-Magenis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515551
|
1.000 |
0.080 |
X |
21977174 |
missense variant |
A/G
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515552
|
1.000 |
0.080 |
X |
21977180 |
missense variant |
T/C
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515381
|
1.000 |
0.080 |
X |
21972576 |
splice region variant |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|