rs111401431
|
0.763 |
0.200 |
15 |
48468097 |
missense variant |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs111984349
|
0.763 |
0.200 |
15 |
48415759 |
missense variant |
C/T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs113543334
|
0.763 |
0.200 |
15 |
48432944 |
missense variant |
A/G
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs113871094
|
0.683 |
0.320 |
15 |
48465820 |
stop gained |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137854480
|
0.742 |
0.200 |
15 |
48537629 |
missense variant |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs140583
|
0.763 |
0.200 |
15 |
48495219 |
stop gained |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555396783
|
1.000 |
0.160 |
15 |
48463209 |
inframe deletion |
GTAGTTTCTGTAGCACAAACTTCT/-
|
del
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555397413
|
0.732 |
0.280 |
15 |
48470705 |
missense variant |
T/C
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555397718
|
0.776 |
0.200 |
15 |
48474566 |
missense variant |
C/A;T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555400373
|
0.763 |
0.200 |
15 |
48515393 |
missense variant |
A/G
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1566899590
|
0.776 |
0.200 |
15 |
48448894 |
splice acceptor variant |
C/T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1566911957
|
0.776 |
0.200 |
15 |
48496204 |
frameshift variant |
GTACACATTCA/-
|
delins
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922185
|
0.752 |
0.200 |
15 |
48505037 |
missense variant |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922204
|
0.763 |
0.200 |
15 |
48468542 |
splice region variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922228
|
0.763 |
0.200 |
15 |
48430736 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs397515757
|
0.752 |
0.200 |
15 |
48515382 |
splice region variant |
C/T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs71467648
|
0.776 |
0.200 |
15 |
48437898 |
stop gained |
A/C;T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs727503054
|
0.732 |
0.200 |
15 |
48420752 |
missense variant |
A/G;T
|
snv
|
1.6E-05
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs727503057
|
0.708 |
0.280 |
15 |
48505106 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs730880099
|
0.742 |
0.200 |
15 |
48510125 |
missense variant |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs794728195
|
0.752 |
0.200 |
15 |
48495155 |
missense variant |
G/A
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs794728208
|
0.776 |
0.200 |
15 |
48485374 |
missense variant |
C/T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs794728334
|
0.763 |
0.200 |
15 |
48437069 |
stop gained |
C/A;T
|
snv
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|