rs121912866
|
1.000 |
0.240 |
12 |
47978698 |
stop gained |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121912869
|
1.000 |
0.240 |
12 |
47995904 |
stop gained |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121912893
|
0.708 |
0.400 |
12 |
47983721 |
stop gained |
G/A;T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1246771678
|
1.000 |
0.240 |
12 |
48000055 |
stop gained |
G/A;T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555166555
|
1.000 |
0.240 |
12 |
47982940 |
stop gained |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1565679039
|
0.701 |
0.400 |
12 |
47983399 |
stop gained |
T/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs748459670
|
1.000 |
0.240 |
12 |
47978015 |
stop gained |
G/A;C
|
snv
|
4.0E-06;
3.6E-05
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs794727261
|
0.716 |
0.400 |
12 |
47999953 |
stop gained |
G/T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121912882
|
0.851 |
0.280 |
12 |
47979534 |
missense variant |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.710 |
1.000 |
4 |
1994 |
2018 |
rs121912884
|
1.000 |
0.240 |
12 |
47985575 |
missense variant |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1994 |
2010 |
rs1025202963
|
1.000 |
0.240 |
12 |
47987655 |
missense variant |
C/T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121912874
|
0.716 |
0.400 |
12 |
47978329 |
missense variant |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121912876
|
0.925 |
0.280 |
12 |
47994041 |
missense variant |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs794727339
|
1.000 |
0.240 |
12 |
47987085 |
missense variant |
C/G;T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs886043356
|
1.000 |
0.240 |
12 |
47977118 |
missense variant |
C/T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555166295
|
1.000 |
0.240 |
12 |
47982105 |
splice donor variant |
A/-
|
del
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555166658
|
1.000 |
0.240 |
12 |
47983384 |
splice donor variant |
C/T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121912873
|
1.000 |
0.240 |
12 |
47977627 |
frameshift variant |
A/-
|
del
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555164735
|
1.000 |
0.240 |
12 |
47975472 |
frameshift variant |
G/-
|
del
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555166218
|
1.000 |
0.240 |
12 |
47981804 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555165204
|
1.000 |
0.240 |
12 |
47977428 |
splice acceptor variant |
C/T
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555168309
|
1.000 |
0.240 |
12 |
47992930 |
splice acceptor variant |
C/-
|
delins
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555168965
|
1.000 |
0.240 |
12 |
47996544 |
splice region variant |
T/-
|
delins
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|