rs7053320
|
|
|
X |
10573070 |
intron variant |
C/T
|
snv
|
|
0.12
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs104894865
|
1.000 |
0.200 |
X |
10567205 |
stop gained |
C/A;G;T
|
snv
|
5.5E-06;
5.5E-06
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1555895704
|
1.000 |
0.200 |
X |
10495619 |
stop gained |
G/A
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1556001856
|
1.000 |
0.200 |
X |
10449491 |
stop gained |
G/T
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1556001968
|
1.000 |
0.200 |
X |
10449647 |
stop gained |
C/T
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1556003095
|
1.000 |
0.200 |
X |
10454913 |
stop gained |
-/CAAT
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs387906719
|
1.000 |
0.200 |
X |
10523136 |
stop gained |
C/A
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs745554420
|
1.000 |
0.200 |
X |
10455042 |
stop gained |
G/A
|
snv
|
5.5E-06
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs104894866
|
1.000 |
0.200 |
X |
10482609 |
missense variant |
A/G
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
4 |
1997 |
2005 |
rs28934611
|
1.000 |
0.200 |
X |
10449495 |
missense variant |
A/G
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
4 |
1997 |
2005 |
rs775422871
|
1.000 |
0.160 |
X |
10449669 |
missense variant |
A/G
|
snv
|
2.7E-05
|
|
Opitz-G syndrome, type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1556004366
|
1.000 |
0.200 |
X |
10459700 |
missense variant |
C/G
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1556004400
|
1.000 |
0.200 |
X |
10459732 |
missense variant |
T/C
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs398123341
|
1.000 |
0.200 |
X |
10449709 |
missense variant |
T/C;G
|
snv
|
5.6E-06;
1.7E-05
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1555894390
|
1.000 |
0.200 |
X |
10482571 |
frameshift variant |
G/-
|
del
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1556003200
|
1.000 |
0.200 |
X |
10455071 |
frameshift variant |
G/-
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1569265497
|
1.000 |
0.200 |
X |
10449455 |
frameshift variant |
G/-
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1569268013
|
1.000 |
0.200 |
X |
10454966 |
frameshift variant |
-/C
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1569268029
|
1.000 |
0.200 |
X |
10454978 |
frameshift variant |
CT/-
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs398123342
|
1.000 |
0.200 |
X |
10449573 |
frameshift variant |
-/G
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1555895725
|
1.000 |
0.200 |
X |
10495692 |
splice acceptor variant |
C/G
|
snv
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1569270035
|
1.000 |
0.200 |
X |
10459777 |
inframe deletion |
ATC/-
|
delins
|
|
|
Opitz GBBB Syndrome, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|