rs1418810723
|
0.851 |
0.080 |
2 |
215409981 |
missense variant |
A/T
|
snv
|
8.0E-06
|
|
Thyroid Neoplasm
|
Neoplasms; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1418810723
|
0.851 |
0.080 |
2 |
215409981 |
missense variant |
A/T
|
snv
|
8.0E-06
|
|
Neoplasm Metastasis
|
Pathological Conditions, Signs and Symptoms; Neoplasms
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1418810723
|
0.851 |
0.080 |
2 |
215409981 |
missense variant |
A/T
|
snv
|
8.0E-06
|
|
Thyroid carcinoma
|
Neoplasms; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1418810723
|
0.851 |
0.080 |
2 |
215409981 |
missense variant |
A/T
|
snv
|
8.0E-06
|
|
Carcinoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1418810723
|
0.851 |
0.080 |
2 |
215409981 |
missense variant |
A/T
|
snv
|
8.0E-06
|
|
Tumor Progression
|
Pathological Conditions, Signs and Symptoms
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs757231578
|
1.000 |
0.080 |
2 |
215433387 |
missense variant |
A/C;T
|
snv
|
2.8E-05
|
|
Epidermolysis Bullosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1064795155
|
1.000 |
0.080 |
2 |
215428331 |
missense variant |
G/C
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1373375768
|
1.000 |
0.080 |
2 |
215361578 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1559604072
|
1.000 |
0.080 |
2 |
215430762 |
missense variant |
C/T
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1559609410
|
1.000 |
0.080 |
2 |
215431874 |
missense variant |
C/T
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1559616744
|
1.000 |
0.080 |
2 |
215433371 |
missense variant |
C/T
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs752106647
|
1.000 |
0.080 |
2 |
215406406 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1224741906
|
1.000 |
0.120 |
2 |
215408182 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Familial lichen amyloidosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs137854486
|
1.000 |
0.120 |
2 |
215376612 |
missense variant |
A/T
|
snv
|
|
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs137854487
|
1.000 |
0.120 |
2 |
215375685 |
missense variant |
A/C;G
|
snv
|
|
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs137854488
|
1.000 |
0.120 |
2 |
215406306 |
missense variant |
T/C
|
snv
|
|
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.800 |
1.000 |
1 |
2008 |
2008 |
rs370103949
|
1.000 |
0.120 |
2 |
215406438 |
missense variant |
G/A;T
|
snv
|
2.0E-05;
4.0E-06
|
|
Familial lichen amyloidosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs869025198
|
1.000 |
0.120 |
2 |
215376610 |
missense variant |
C/G
|
snv
|
|
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs869025199
|
1.000 |
0.120 |
2 |
215386884 |
inframe deletion |
GAG/-
|
delins
|
|
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1181638652
|
0.925 |
0.160 |
2 |
215430725 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
7.0E-06
|
Spondylometaphyseal dysplasia, 'corner fracture' type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1553658926
|
0.925 |
0.160 |
2 |
215428246 |
missense variant |
A/C
|
snv
|
|
|
Spondylometaphyseal dysplasia, 'corner fracture' type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
0.800 |
1.000 |
1 |
2017 |
2017 |
rs1553659131
|
0.925 |
0.160 |
2 |
215428306 |
missense variant |
A/C
|
snv
|
|
|
Spondylometaphyseal dysplasia, 'corner fracture' type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
0.800 |
1.000 |
1 |
2017 |
2017 |
rs1553669703
|
0.925 |
0.160 |
2 |
215434713 |
missense variant |
C/A
|
snv
|
|
|
Spondylometaphyseal dysplasia, 'corner fracture' type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries
|
0.800 |
1.000 |
1 |
2017 |
2017 |
rs1181638652
|
0.925 |
0.160 |
2 |
215430725 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
7.0E-06
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553658926
|
0.925 |
0.160 |
2 |
215428246 |
missense variant |
A/C
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|