rs4406737
|
0.925 |
0.120 |
10 |
88999967 |
intron variant |
A/G
|
snv
|
|
0.50
|
Chronic Lymphocytic Leukemia
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
2 |
2013 |
2016 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Chronic Lymphocytic Leukemia
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
1 |
2014 |
2014 |
rs121913076
|
0.925 |
0.120 |
10 |
89014163 |
missense variant |
A/C
|
snv
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs121913078
|
0.925 |
0.120 |
10 |
89008915 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs121913079
|
1.000 |
0.120 |
10 |
89014137 |
missense variant |
A/G
|
snv
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs121913080
|
0.882 |
0.160 |
10 |
89014191 |
missense variant |
G/C
|
snv
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs121913081
|
0.925 |
0.120 |
10 |
89014251 |
missense variant |
C/T
|
snv
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs121913086
|
0.925 |
0.120 |
10 |
89014220 |
missense variant |
G/T
|
snv
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs201072885
|
1.000 |
0.120 |
10 |
89014164 |
missense variant |
C/A
|
snv
|
6.0E-05
|
|
Autoimmune Lymphoproliferative Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2010 |
rs1554852244
|
|
|
10 |
89014158 |
frameshift variant |
-/CATG
|
delins
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1995 |
2016 |
rs121913080
|
0.882 |
0.160 |
10 |
89014191 |
missense variant |
G/C
|
snv
|
|
|
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2011 |
rs1564696849
|
0.925 |
0.160 |
10 |
89012082 |
splice donor variant |
G/A
|
snv
|
|
|
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2012 |
rs1564699214
|
1.000 |
0.160 |
10 |
89014196 |
frameshift variant |
A/-
|
delins
|
|
|
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2013 |
rs4406737
|
0.925 |
0.120 |
10 |
88999967 |
intron variant |
A/G
|
snv
|
|
0.50
|
Small Lymphocytic Lymphoma
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Ulcerative Colitis
|
Digestive System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Ankylosing spondylitis
|
Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Cholangitis, Sclerosing
|
Digestive System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Crohn Disease
|
Digestive System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Small Lymphocytic Lymphoma
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1800682
|
0.637 |
0.440 |
10 |
88990206 |
non coding transcript exon variant |
A/G
|
snv
|
|
0.54
|
Psoriasis
|
Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1926203
|
0.882 |
0.160 |
10 |
88967577 |
intron variant |
C/A
|
snv
|
|
0.59
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1926203
|
0.882 |
0.160 |
10 |
88967577 |
intron variant |
C/A
|
snv
|
|
0.59
|
Malignant neoplasm of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1926203
|
0.882 |
0.160 |
10 |
88967577 |
intron variant |
C/A
|
snv
|
|
0.59
|
Nasopharyngeal carcinoma
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs2147420
|
1.000 |
0.120 |
10 |
88999856 |
intron variant |
A/G
|
snv
|
|
0.50
|
Chronic Lymphocytic Leukemia
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs6586163
|
0.925 |
0.120 |
10 |
88992261 |
non coding transcript exon variant |
A/C
|
snv
|
|
0.58
|
Chronic Lymphocytic Leukemia
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |