rs28937315
|
1.000 |
0.120 |
16 |
3757894 |
missense variant |
T/C
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2001 |
2015 |
rs1057520191
|
1.000 |
0.120 |
16 |
3736690 |
missense variant |
A/G
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2015 |
rs1555473499
|
0.925 |
0.120 |
16 |
3738605 |
missense variant |
A/G
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2015 |
rs746728741
|
1.000 |
0.120 |
16 |
3773849 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2015 |
rs121434624
|
1.000 |
0.120 |
16 |
3850689 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434625
|
0.925 |
0.120 |
16 |
3793533 |
stop gained |
G/A
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434626
|
1.000 |
0.120 |
16 |
3740399 |
missense variant |
C/G
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1302427305
|
0.925 |
0.120 |
16 |
3792074 |
stop gained |
G/A
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs143247685
|
1.000 |
0.120 |
16 |
3770722 |
missense variant |
T/A;C
|
snv
|
2.2E-04;
2.4E-03
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555470631
|
1.000 |
0.120 |
16 |
3727471 |
stop lost |
AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA/G
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555471077
|
1.000 |
0.120 |
16 |
3728772 |
stop gained |
G/C
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472938
|
0.925 |
0.120 |
16 |
3736119 |
frameshift variant |
CA/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555473122
|
1.000 |
0.120 |
16 |
3736772 |
inframe deletion |
CCT/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555483716
|
1.000 |
0.120 |
16 |
3778093 |
frameshift variant |
G/-
|
del
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555483834
|
0.925 |
0.120 |
16 |
3778699 |
splice donor variant |
C/A;T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567262537
|
1.000 |
0.120 |
16 |
3729142 |
stop gained |
G/A
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567263114
|
0.925 |
0.120 |
16 |
3729405 |
frameshift variant |
CT/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567269316
|
1.000 |
0.120 |
16 |
3736104 |
stop gained |
T/A
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567277287
|
1.000 |
0.120 |
16 |
3745356 |
splice acceptor variant |
T/A
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567287477
|
1.000 |
0.120 |
16 |
3757906 |
missense variant |
G/C
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567309482
|
1.000 |
0.120 |
16 |
3782694 |
frameshift variant |
AG/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567316655
|
1.000 |
0.120 |
16 |
3792030 |
frameshift variant |
CA/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1567318022
|
1.000 |
0.120 |
16 |
3793539 |
frameshift variant |
-/T
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199821421
|
0.827 |
0.160 |
16 |
3728723 |
stop gained |
G/A;T
|
snv
|
5.2E-05
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200782888
|
0.925 |
0.120 |
16 |
3749626 |
splice donor variant |
C/G;T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|