rs79318303
|
0.882 |
0.320 |
3 |
48467514 |
inframe deletion |
CCACTGGGTCTGCTGGCC/-
|
delins
|
|
|
Chilblain lupus 1
|
Skin and Connective Tissue Diseases; Wounds and Injuries
|
0.700 |
1.000 |
4 |
2010 |
2017 |
rs79318303
|
0.882 |
0.320 |
3 |
48467514 |
inframe deletion |
CCACTGGGTCTGCTGGCC/-
|
delins
|
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2010 |
2017 |
rs79318303
|
0.882 |
0.320 |
3 |
48467514 |
inframe deletion |
CCACTGGGTCTGCTGGCC/-
|
delins
|
|
|
AICARDI-GOUTIERES SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2017 |
rs72556555
|
1.000 |
0.080 |
3 |
48467375 |
missense variant |
G/A;C
|
snv
|
2.0E-05;
2.0E-04
|
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
rs1553820518
|
0.882 |
0.320 |
3 |
48467484 |
stop gained |
A/T
|
snv
|
|
|
Chilblain lupus 1
|
Skin and Connective Tissue Diseases; Wounds and Injuries
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs1553820518
|
0.882 |
0.320 |
3 |
48467484 |
stop gained |
A/T
|
snv
|
|
|
AICARDI-GOUTIERES SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs1553820518
|
0.882 |
0.320 |
3 |
48467484 |
stop gained |
A/T
|
snv
|
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs1553820434
|
0.882 |
0.320 |
3 |
48467354 |
frameshift variant |
-/G
|
delins
|
|
|
Chilblain lupus 1
|
Skin and Connective Tissue Diseases; Wounds and Injuries
|
0.700 |
|
0 |
|
|
rs1553820434
|
0.882 |
0.320 |
3 |
48467354 |
frameshift variant |
-/G
|
delins
|
|
|
AICARDI-GOUTIERES SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553820434
|
0.882 |
0.320 |
3 |
48467354 |
frameshift variant |
-/G
|
delins
|
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1560113283
|
1.000 |
0.200 |
3 |
48467357 |
frameshift variant |
-/GTCA
|
delins
|
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs780022923
|
1.000 |
0.080 |
3 |
48467572 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs78379807
|
1.000 |
0.120 |
3 |
48467261 |
inframe insertion |
-/CCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGC
|
delins
|
|
|
AICARDI-GOUTIERES SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs76224909
|
1.000 |
0.120 |
3 |
48467562 |
missense variant |
A/C
|
snv
|
2.0E-05
|
7.0E-06
|
AICARDI-GOUTIERES SYNDROME 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2006 |
2013 |
rs148833270
|
1.000 |
0.080 |
3 |
48467524 |
missense variant |
C/T
|
snv
|
6.4E-05
|
2.1E-05
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
rs370504038
|
0.851 |
0.160 |
3 |
48467569 |
missense variant |
A/G
|
snv
|
1.2E-04
|
1.2E-04
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.710 |
1.000 |
4 |
2007 |
2013 |
rs370504038
|
0.851 |
0.160 |
3 |
48467569 |
missense variant |
A/G
|
snv
|
1.2E-04
|
1.2E-04
|
Lupus Vulgaris
|
Infections; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs370504038
|
0.851 |
0.160 |
3 |
48467569 |
missense variant |
A/G
|
snv
|
1.2E-04
|
1.2E-04
|
Lupus Erythematosus
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs370504038
|
0.851 |
0.160 |
3 |
48467569 |
missense variant |
A/G
|
snv
|
1.2E-04
|
1.2E-04
|
Lupus Erythematosus, Discoid
|
Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs112741962
|
1.000 |
0.080 |
3 |
48467394 |
missense variant |
G/C
|
snv
|
1.2E-04
|
4.6E-04
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs113107733
|
1.000 |
0.080 |
3 |
48467334 |
missense variant |
G/A
|
snv
|
1.3E-04
|
5.0E-04
|
Lupus Erythematosus, Systemic
|
Skin and Connective Tissue Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs114582462
|
|
|
3 |
48475940 |
intron variant |
A/G
|
snv
|
|
1.3E-02
|
Red cell distribution width determination
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs114582462
|
|
|
3 |
48475940 |
intron variant |
A/G
|
snv
|
|
1.3E-02
|
RDW - Red blood cell distribution width result
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs3135945
|
1.000 |
0.200 |
3 |
48467567 |
synonymous variant |
G/A
|
snv
|
9.4E-03
|
4.0E-02
|
HIV Infections
|
Infections; Immune System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs3135945
|
1.000 |
0.200 |
3 |
48467567 |
synonymous variant |
G/A
|
snv
|
9.4E-03
|
4.0E-02
|
Primary Sjögren's syndrome
|
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |