rs1057519344
|
1.000 |
0.080 |
1 |
226983549 |
splice region variant |
-/GTA
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1085307053
|
1.000 |
0.080 |
1 |
226982960 |
frameshift variant |
T/-
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs387906298
|
1.000 |
0.080 |
1 |
226986604 |
frameshift variant |
-/G
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs606231138
|
1.000 |
0.080 |
1 |
226984237 |
splice donor variant |
T/C
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1057519343
|
1.000 |
0.080 |
1 |
226984892 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119468006
|
1.000 |
0.080 |
1 |
226982111 |
missense variant |
G/A;T
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119468008
|
1.000 |
0.080 |
1 |
226984910 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553280621
|
1.000 |
0.080 |
1 |
226984233 |
frameshift variant |
G/-
|
del
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553281318
|
0.882 |
0.120 |
1 |
226986536 |
frameshift variant |
-/A
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906299
|
1.000 |
0.080 |
1 |
226986539 |
inframe deletion |
ACC/-
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764847439
|
1.000 |
0.080 |
1 |
226986632 |
frameshift variant |
GGG/-;GG;GGGG
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045217
|
1.000 |
0.080 |
1 |
226984169 |
frameshift variant |
CA/-
|
delins
|
|
1.4E-05
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752130338
|
1.000 |
0.080 |
1 |
226986637 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs974677376
|
1.000 |
0.080 |
1 |
226984656 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119468009
|
1.000 |
0.080 |
1 |
226985326 |
missense variant |
G/A;T
|
snv
|
1.4E-04;
4.0E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs778798354
|
1.000 |
0.080 |
1 |
226982734 |
missense variant |
G/A;C
|
snv
|
1.6E-05;
4.0E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2008 |
2016 |
rs763311061
|
1.000 |
0.080 |
1 |
226983827 |
missense variant |
G/A;C
|
snv
|
3.2E-05;
4.0E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs781518112
|
1.000 |
0.080 |
1 |
226982126 |
missense variant |
T/C
|
snv
|
4.4E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs747150601
|
1.000 |
0.080 |
1 |
226983607 |
stop gained |
T/A
|
snv
|
8.0E-06
|
1.4E-05
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119468005
|
1.000 |
0.080 |
1 |
226965719 |
missense variant |
C/T
|
snv
|
8.0E-06
|
1.4E-05
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119468004
|
1.000 |
0.080 |
1 |
226985332 |
missense variant |
G/A;C
|
snv
|
1.6E-05
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs373971613
|
1.000 |
0.080 |
1 |
226982954 |
missense variant |
C/G;T
|
snv
|
1.7E-05;
6.4E-05
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs606231139
|
1.000 |
0.080 |
1 |
226965322 |
frameshift variant |
AATCCCCTGTTGGGGGCCTCAC/TTG
|
delins
|
2.0E-05
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs61995958
|
1.000 |
0.080 |
1 |
226986598 |
missense variant |
C/A;G;T
|
snv
|
3.2E-05;
3.2E-05;
2.4E-05
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2008 |
2016 |
rs201908721
|
1.000 |
0.080 |
1 |
226982719 |
missense variant |
C/T
|
snv
|
2.8E-05
|
2.8E-05
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2008 |
2016 |