rs137852959
|
0.790 |
0.160 |
20 |
3918695 |
missense variant |
G/A
|
snv
|
8.7E-05
|
2.3E-04
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.820 |
1.000 |
13 |
2001 |
2016 |
rs137852962
|
1.000 |
0.080 |
20 |
3908153 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
8 |
2001 |
2016 |
rs746484727
|
1.000 |
0.080 |
20 |
3910659 |
missense variant |
A/G
|
snv
|
2.4E-05
|
7.0E-06
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
1.000 |
8 |
2001 |
2016 |
rs1348762206
|
1.000 |
0.080 |
20 |
3908130 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs137852961
|
1.000 |
0.080 |
20 |
3908087 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2016 |
rs137852963
|
1.000 |
0.080 |
20 |
3912634 |
missense variant |
G/A
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2016 |
rs137852964
|
0.925 |
0.080 |
20 |
3910646 |
missense variant |
T/C
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs137852965
|
0.925 |
0.080 |
20 |
3907997 |
missense variant |
A/G
|
snv
|
1.6E-05
|
7.0E-06
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs137852966
|
0.925 |
0.080 |
20 |
3908129 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs137852967
|
0.882 |
0.080 |
20 |
3918717 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2016 |
rs750176786
|
1.000 |
0.080 |
20 |
3912460 |
missense variant |
T/C
|
snv
|
4.0E-06
|
2.1E-05
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs752078407
|
1.000 |
0.080 |
20 |
3910806 |
missense variant |
A/T
|
snv
|
6.4E-05
|
3.5E-05
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs754521581
|
1.000 |
0.080 |
20 |
3910665 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
8.0E-06
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs759223327
|
1.000 |
0.080 |
20 |
3910787 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs759332123
|
1.000 |
0.080 |
20 |
3917013 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs765679726
|
1.000 |
0.080 |
20 |
3889501 |
missense variant |
A/G
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs775459398
|
1.000 |
0.080 |
20 |
3917016 |
missense variant |
T/A;C
|
snv
|
4.0E-06
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2016 |
rs1555787646
|
1.000 |
0.080 |
20 |
3907977 |
missense variant |
A/G
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs1261714833
|
1.000 |
0.080 |
20 |
3912456 |
splice acceptor variant |
A/C
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2003 |
rs766251466
|
1.000 |
0.080 |
20 |
3916956 |
inframe deletion |
GAG/-
|
del
|
|
2.8E-05
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2006 |
rs137852968
|
0.925 |
0.080 |
20 |
3916955 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
1.2E-05;
3.6E-05
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1555787799
|
1.000 |
0.080 |
20 |
3908233 |
stop gained |
T/A
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555789557
|
1.000 |
0.080 |
20 |
3916940 |
frameshift variant |
ATGA/-
|
del
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs753400880
|
1.000 |
0.080 |
20 |
3910690 |
frameshift variant |
C/-
|
delins
|
8.0E-06
|
7.0E-06
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs771071114
|
1.000 |
0.080 |
20 |
3912541 |
missense variant |
G/A;C;T
|
snv
|
|
|
Hallervorden-Spatz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |