rs141659620
|
0.882 |
0.160 |
16 |
89531961 |
missense variant |
G/A;C
|
snv
|
8.3E-04;
8.0E-06
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1998 |
2016 |
rs61755320
|
0.716 |
0.520 |
16 |
89546737 |
missense variant |
C/T
|
snv
|
2.9E-03
|
3.5E-03
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2006 |
2016 |
rs121918357
|
1.000 |
0.080 |
16 |
89553932 |
missense variant |
G/A;C
|
snv
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1998 |
2016 |
rs267607085
|
1.000 |
0.080 |
16 |
89550579 |
missense variant |
G/C
|
snv
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1998 |
2016 |
rs768823392
|
0.827 |
0.120 |
16 |
89546657 |
coding sequence variant |
GGCGGGAGA/-
|
delins
|
2.6E-04
|
4.2E-04
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2001 |
2016 |
rs760818649
|
0.925 |
0.080 |
16 |
89531963 |
frameshift variant |
C/-;CC
|
delins
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2008 |
2015 |
rs752623413
|
1.000 |
0.080 |
16 |
89556933 |
missense variant |
T/C
|
snv
|
5.2E-05
|
5.6E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2008 |
2016 |
rs121918358
|
0.882 |
0.160 |
16 |
89510539 |
stop gained |
T/A
|
snv
|
4.2E-04
|
1.8E-04
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2008 |
2016 |
rs72547551
|
0.882 |
0.160 |
16 |
89550545 |
missense variant |
C/T
|
snv
|
3.6E-05
|
1.5E-04
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2004 |
2016 |
rs369227537
|
1.000 |
0.080 |
16 |
89550502 |
stop gained |
A/T
|
snv
|
1.4E-04
|
9.8E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2012 |
2016 |
rs1229749476
|
1.000 |
0.080 |
16 |
89548001 |
splice acceptor variant |
A/G
|
snv
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2012 |
rs568556987
|
1.000 |
0.080 |
16 |
89553792 |
splice acceptor variant |
A/G
|
snv
|
1.6E-05;
4.0E-06
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2012 |
rs747503698
|
1.000 |
0.080 |
16 |
89553952 |
frameshift variant |
-/T
|
delins
|
4.4E-05
|
3.5E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs748255454
|
1.000 |
0.080 |
16 |
89554495 |
frameshift variant |
GCTGGTGGCCAAGGCCT/-
|
delins
|
|
2.8E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs748309520
|
0.882 |
0.160 |
16 |
89531903 |
splice acceptor variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs752989523
|
0.882 |
0.160 |
16 |
89553853 |
stop gained |
G/A;C
|
snv
|
8.0E-06
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs768595656
|
1.000 |
0.080 |
16 |
89529568 |
frameshift variant |
TT/C;T
|
delins
|
8.0E-06
|
7.0E-06
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs774774648
|
1.000 |
0.080 |
16 |
89526347 |
stop gained |
C/T
|
snv
|
8.0E-05
|
2.8E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs879253797
|
0.882 |
0.160 |
16 |
89556954 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs879253798
|
1.000 |
0.080 |
16 |
89524099 |
frameshift variant |
TC/-
|
delins
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1060503425
|
1.000 |
0.080 |
16 |
89531961 |
frameshift variant |
GG/AGC
|
delins
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1217391623
|
0.882 |
0.160 |
16 |
89556976 |
frameshift variant |
G/-
|
del
|
|
7.0E-06
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1412575396
|
1.000 |
0.080 |
16 |
89529580 |
splice donor variant |
G/C;T
|
snv
|
|
7.0E-06
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567934754
|
1.000 |
0.080 |
16 |
89554484 |
splice acceptor variant |
A/G
|
snv
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs368373840
|
1.000 |
0.080 |
16 |
89531949 |
missense variant |
G/A;C
|
snv
|
3.6E-05
|
3.5E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|