rs1569249386
|
1.000 |
0.240 |
21 |
46397414 |
stop gained |
C/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs119479061
|
1.000 |
0.240 |
21 |
46346146 |
stop gained |
G/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs119479062
|
1.000 |
0.240 |
21 |
46411840 |
stop gained |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs119479063
|
1.000 |
0.240 |
21 |
46367083 |
stop gained |
G/A;T
|
snv
|
2.0E-05
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs119479064
|
1.000 |
0.240 |
21 |
46435904 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1315359733
|
1.000 |
0.240 |
21 |
46411555 |
stop gained |
G/A;T
|
snv
|
8.2E-06
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1359618876
|
1.000 |
0.240 |
21 |
46390709 |
stop gained |
G/T
|
snv
|
|
2.1E-05
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1474939581
|
1.000 |
0.240 |
21 |
46443824 |
stop gained |
C/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555954786
|
1.000 |
0.240 |
21 |
46353985 |
splice acceptor variant |
A/G
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555956600
|
1.000 |
0.240 |
21 |
46357008 |
frameshift variant |
-/G
|
delins
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555959737
|
1.000 |
0.240 |
21 |
46363457 |
splice acceptor variant |
ATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAA/-
|
delins
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555962301
|
1.000 |
0.240 |
21 |
46367032 |
stop gained |
A/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555993038
|
1.000 |
0.240 |
21 |
46422071 |
stop gained |
C/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555999948
|
1.000 |
0.240 |
21 |
46430123 |
stop gained |
G/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1569178877
|
1.000 |
0.240 |
21 |
46347513 |
splice donor variant |
G/A
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1569239749
|
1.000 |
0.240 |
21 |
46389431 |
missense variant |
G/C
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs181690344
|
1.000 |
0.240 |
21 |
46353115 |
stop gained |
C/T
|
snv
|
2.0E-05
|
2.1E-05
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs369195346
|
1.000 |
0.240 |
21 |
46411651 |
stop gained |
G/A;T
|
snv
|
1.6E-05;
8.1E-06
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs387906928
|
1.000 |
0.240 |
21 |
46385979 |
stop gained |
G/A;T
|
snv
|
6.0E-05
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs397509366
|
1.000 |
0.240 |
21 |
46355577 |
frameshift variant |
A/-
|
del
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs397514033
|
1.000 |
0.240 |
21 |
46388844 |
frameshift variant |
-/T
|
delins
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587779355
|
1.000 |
0.240 |
21 |
46326518 |
stop gained |
G/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587784302
|
1.000 |
0.240 |
21 |
46366955 |
frameshift variant |
CAGACTTTGAG/-
|
delins
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587784308
|
1.000 |
0.240 |
21 |
46402388 |
stop gained |
G/T
|
snv
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587784312
|
1.000 |
0.240 |
21 |
46411794 |
frameshift variant |
CCTGGCAGCC/-
|
delins
|
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|