rs797045109
|
1.000 |
0.080 |
6 |
152442152 |
frameshift variant |
-/CC
|
ins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
rs886042380
|
0.925 |
0.120 |
6 |
152334218 |
frameshift variant |
T/-
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs1563130387
|
1.000 |
0.080 |
6 |
152331386 |
frameshift variant |
G/-
|
del
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1564367104
|
0.925 |
0.120 |
6 |
152483215 |
frameshift variant |
GA/-
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs119103243
|
1.000 |
0.080 |
6 |
152381320 |
stop gained |
T/A
|
snv
|
2.8E-05
|
7.0E-06
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103244
|
1.000 |
0.080 |
6 |
152201838 |
stop gained |
G/A;T
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103245
|
1.000 |
0.080 |
6 |
152213737 |
stop gained |
G/A
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1203553546
|
1.000 |
0.080 |
6 |
152488422 |
stop gained |
C/A;T
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554226673
|
1.000 |
0.080 |
6 |
152220971 |
stop gained |
G/T
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554247806
|
1.000 |
0.080 |
6 |
152231460 |
frameshift variant |
A/-
|
del
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554553667
|
1.000 |
0.080 |
6 |
152206185 |
frameshift variant |
-/T
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554573328
|
1.000 |
0.080 |
6 |
152213698 |
stop gained |
C/A
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554676394
|
1.000 |
0.080 |
6 |
152425487 |
stop gained |
C/A
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554721227
|
1.000 |
0.080 |
6 |
152449537 |
frameshift variant |
AC/-
|
del
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554753528
|
1.000 |
0.080 |
6 |
152463519 |
splice acceptor variant |
T/C
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554768245
|
0.807 |
0.160 |
6 |
152472395 |
frameshift variant |
C/-
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554829141
|
1.000 |
0.080 |
6 |
152510291 |
frameshift variant |
AG/-
|
delins
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1562842409
|
1.000 |
0.080 |
6 |
152293587 |
splice donor variant |
C/A;T
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1563941569
|
1.000 |
0.080 |
6 |
152427695 |
stop gained |
G/A
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564136499
|
1.000 |
0.080 |
6 |
152453590 |
stop gained |
C/T
|
snv
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs606231134
|
0.925 |
0.120 |
6 |
152321898 |
intron variant |
T/C
|
snv
|
3.2E-05
|
3.5E-05
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs606231135
|
1.000 |
0.080 |
6 |
152347227 |
frameshift variant |
CA/-
|
del
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs606231292
|
1.000 |
0.080 |
6 |
152354817 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs746328978
|
0.925 |
0.120 |
6 |
152308620 |
stop gained |
G/A;T
|
snv
|
8.4E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755531859
|
1.000 |
0.080 |
6 |
152510340 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|