rs17689531
|
0.925 |
0.040 |
4 |
71157058 |
intron variant |
T/C
|
snv
|
|
7.3E-02
|
Adolescent idiopathic scoliosis
|
Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs17689531
|
0.925 |
0.040 |
4 |
71157058 |
intron variant |
T/C
|
snv
|
|
7.3E-02
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs2579330
|
|
|
4 |
71261172 |
intron variant |
C/T
|
snv
|
|
0.88
|
QT interval feature (observable entity)
|
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs2602098
|
|
|
4 |
71269738 |
intron variant |
T/C;G
|
snv
|
|
|
Suicide attempt
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs2363719
|
|
|
4 |
71272499 |
intron variant |
G/A
|
snv
|
|
0.10
|
QT interval feature (observable entity)
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs121908858
|
0.925 |
0.360 |
4 |
71339333 |
stop gained |
C/T
|
snv
|
|
|
Renal Tubular Acidosis, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.020 |
1.000 |
2 |
2005 |
2008 |
rs121908858
|
0.925 |
0.360 |
4 |
71339333 |
stop gained |
C/T
|
snv
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553913019
|
1.000 |
0.360 |
4 |
71440634 |
frameshift variant |
A/-
|
delins
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121908856
|
1.000 |
0.360 |
4 |
71447706 |
missense variant |
A/C
|
snv
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
6 |
1999 |
2008 |
rs886059596
|
1.000 |
0.080 |
4 |
71451214 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Hydrophthalmos
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs121908857
|
0.925 |
0.360 |
4 |
71472728 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
6 |
1999 |
2008 |
rs121908857
|
0.925 |
0.360 |
4 |
71472728 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Renal Tubular Acidosis, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.020 |
1.000 |
2 |
2016 |
2018 |
rs1530976
|
1.000 |
0.080 |
4 |
71527674 |
intron variant |
G/A;C
|
snv
|
|
|
Childhood asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1203164637
|
0.925 |
0.360 |
4 |
71557721 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
6 |
1999 |
2008 |
rs1203164637
|
0.925 |
0.360 |
4 |
71557721 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Renal Tubular Acidosis, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.020 |
1.000 |
2 |
2006 |
2010 |