rs104894044
|
0.925 |
0.120 |
7 |
155811825 |
stop gained |
G/A
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894044
|
0.925 |
0.120 |
7 |
155811825 |
stop gained |
G/A
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894045
|
0.925 |
0.120 |
7 |
155806545 |
stop gained |
T/A
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894045
|
0.925 |
0.120 |
7 |
155806545 |
stop gained |
T/A
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894046
|
0.925 |
0.120 |
7 |
155803439 |
stop gained |
C/A;T
|
snv
|
1.5E-05
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894046
|
0.925 |
0.120 |
7 |
155803439 |
stop gained |
C/A;T
|
snv
|
1.5E-05
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894048
|
0.925 |
0.120 |
7 |
155803019 |
missense variant |
G/C;T
|
snv
|
3.7E-05
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894050
|
0.925 |
0.120 |
7 |
155811860 |
missense variant |
T/A
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894051
|
0.925 |
0.120 |
7 |
155803523 |
stop gained |
C/A;G
|
snv
|
1.5E-05
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894051
|
0.925 |
0.120 |
7 |
155803523 |
stop gained |
C/A;G
|
snv
|
1.5E-05
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894053
|
0.925 |
0.160 |
7 |
155806475 |
stop gained |
C/T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894053
|
0.925 |
0.160 |
7 |
155806475 |
stop gained |
C/T
|
snv
|
|
|
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1057518660
|
1.000 |
0.120 |
7 |
155803005 |
frameshift variant |
G/-
|
delins
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1347054935
|
1.000 |
0.120 |
7 |
155803595 |
missense variant |
G/C
|
snv
|
8.8E-06
|
1.4E-05
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1420292012
|
1.000 |
0.120 |
7 |
155803493 |
missense variant |
G/A;T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs146990376
|
1.000 |
0.120 |
7 |
155806384 |
stop gained |
G/A;C
|
snv
|
1.2E-05
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554493607
|
1.000 |
0.120 |
7 |
155802982 |
stop gained |
G/T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554493810
|
1.000 |
0.120 |
7 |
155803416 |
frameshift variant |
GAGCCCGAGGACGCCTCGGGCTC/-
|
delins
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554495331
|
1.000 |
0.120 |
7 |
155811980 |
frameshift variant |
A/-
|
del
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607047
|
0.925 |
0.120 |
7 |
155806513 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28936675
|
0.925 |
0.120 |
7 |
155812032 |
missense variant |
C/T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28936675
|
0.925 |
0.120 |
7 |
155812032 |
missense variant |
C/T
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515375
|
0.925 |
0.120 |
7 |
155803481 |
inframe deletion |
GCGGCGGTGAGCAGCAGGCGC/-
|
delins
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515375
|
0.925 |
0.120 |
7 |
155803481 |
inframe deletion |
GCGGCGGTGAGCAGCAGGCGC/-
|
delins
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397515376
|
0.925 |
0.120 |
7 |
155803149 |
inframe deletion |
GCGCGAAGG/-
|
delins
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|