rs121434305
|
0.925 |
0.120 |
8 |
6409330 |
stop gained |
C/G
|
snv
|
1.2E-05
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1488084787
|
1.000 |
0.120 |
8 |
6414797 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
7.0E-06
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554471681
|
1.000 |
0.120 |
8 |
6406691 |
splice donor variant |
TGA/-
|
del
|
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554496609
|
1.000 |
0.120 |
8 |
6455240 |
frameshift variant |
-/CA
|
delins
|
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199422125
|
0.925 |
0.120 |
8 |
6436147 |
frameshift variant |
-/A
|
delins
|
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201599657
|
1.000 |
0.120 |
8 |
6499860 |
stop gained |
G/A;T
|
snv
|
1.1E-04
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906961
|
1.000 |
0.120 |
8 |
6414865 |
missense variant |
C/T
|
snv
|
8.0E-06
|
1.4E-05
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs541042265
|
1.000 |
0.120 |
8 |
6480712 |
splice acceptor variant |
A/G
|
snv
|
1.2E-04
|
4.9E-05
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783733
|
1.000 |
0.120 |
8 |
6414778 |
missense variant |
T/C
|
snv
|
2.0E-05
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783735
|
1.000 |
0.120 |
8 |
6455186 |
frameshift variant |
AT/-
|
del
|
3.2E-05
|
4.2E-05
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783739
|
1.000 |
0.120 |
8 |
6642993 |
splice acceptor variant |
G/A;C
|
snv
|
1.2E-05;
1.2E-05
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783741
|
1.000 |
0.120 |
8 |
6431543 |
missense variant |
C/A;T
|
snv
|
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs748011724
|
1.000 |
0.120 |
8 |
6445347 |
stop gained |
T/C;G
|
snv
|
3.2E-05
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs753597039
|
1.000 |
0.120 |
8 |
6439078 |
frameshift variant |
-/A
|
delins
|
1.2E-05
|
2.1E-05
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755862917
|
1.000 |
0.120 |
8 |
6431567 |
stop gained |
C/G
|
snv
|
8.1E-06
|
|
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|