rs121908368
|
1.000 |
0.160 |
7 |
138739541 |
missense variant |
G/A
|
snv
|
2.0E-05
|
7.0E-06
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2000 |
2002 |
rs28939081
|
0.925 |
0.280 |
7 |
138709633 |
missense variant |
C/T
|
snv
|
4.0E-05
|
7.0E-06
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2000 |
2002 |
rs754517968
|
1.000 |
0.160 |
7 |
138709745 |
stop gained |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2006 |
2011 |
rs763982675
|
1.000 |
0.160 |
7 |
138747514 |
missense variant |
C/A;T
|
snv
|
8.0E-05
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs121908367
|
1.000 |
0.160 |
7 |
138715764 |
stop gained |
G/A
|
snv
|
2.4E-05
|
1.4E-05
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs267606671
|
1.000 |
0.160 |
7 |
138706689 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
5.2E-05
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs587776615
|
1.000 |
0.160 |
7 |
138734135 |
splice donor variant |
C/T
|
snv
|
1.2E-05
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs587776616
|
1.000 |
0.160 |
7 |
138771143 |
frameshift variant |
A/-
|
delins
|
4.0E-06
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs587776617
|
1.000 |
0.160 |
7 |
138762435 |
splice acceptor variant |
C/T
|
snv
|
|
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1443883930
|
1.000 |
0.160 |
7 |
138745255 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
3 |
2000 |
2018 |