rs121917878
|
0.925 |
0.120 |
2 |
44942780 |
missense variant |
C/G
|
snv
|
|
|
HOLOPROSENCEPHALY 4 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121917879
|
0.925 |
0.120 |
2 |
44942874 |
missense variant |
G/C
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121917880
|
0.925 |
0.120 |
2 |
44942853 |
missense variant |
T/C
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553337688
|
1.000 |
0.120 |
2 |
44942544 |
frameshift variant |
CCTCTACCACA/-
|
delins
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1558420022
|
1.000 |
0.120 |
2 |
44942611 |
stop gained |
G/A
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906867
|
0.925 |
0.120 |
2 |
44942489 |
stop gained |
G/T
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906867
|
0.925 |
0.120 |
2 |
44942489 |
stop gained |
G/T
|
snv
|
|
|
Schizencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515502
|
1.000 |
0.120 |
2 |
44942800 |
frameshift variant |
CCCCAGCAAG/-
|
del
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs989286015
|
1.000 |
0.120 |
2 |
44942834 |
missense variant |
G/T
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906868
|
1.000 |
0.080 |
2 |
44942603 |
missense variant |
G/T
|
snv
|
1.7E-05
|
2.8E-05
|
Schizencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs741813
|
|
|
2 |
44940747 |
non coding transcript exon variant |
T/A
|
snv
|
|
0.65
|
mathematical ability
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs62131236
|
|
|
2 |
44944407 |
intron variant |
C/T
|
snv
|
|
0.21
|
Intelligence
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2018 |
2018 |
rs121917878
|
0.925 |
0.120 |
2 |
44942780 |
missense variant |
C/G
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1999 |
2010 |
rs121917879
|
0.925 |
0.120 |
2 |
44942874 |
missense variant |
G/C
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1999 |
2010 |
rs121917880
|
0.925 |
0.120 |
2 |
44942853 |
missense variant |
T/C
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1999 |
2010 |
rs137853021
|
1.000 |
0.120 |
2 |
44942443 |
missense variant |
G/T
|
snv
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1999 |
2010 |
rs121917881
|
1.000 |
0.120 |
2 |
44942310 |
missense variant |
G/A
|
snv
|
1.0E-04
|
1.6E-04
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1999 |
2010 |
rs780942050
|
1.000 |
0.120 |
2 |
44944651 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
HOLOPROSENCEPHALY 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1999 |
2010 |