rs121917833
|
1.000 |
0.080 |
16 |
67436251 |
missense variant |
G/A
|
snv
|
4.8E-05
|
1.4E-05
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
13 |
1995 |
2018 |
rs121917780
|
1.000 |
0.080 |
16 |
67436100 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2007 |
rs121917781
|
1.000 |
0.080 |
16 |
67436794 |
missense variant |
C/A;T
|
snv
|
1.6E-05
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2007 |
rs28934591
|
1.000 |
0.080 |
16 |
67436115 |
missense variant |
C/A;T
|
snv
|
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2007 |
rs28934592
|
1.000 |
0.080 |
16 |
67436101 |
missense variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2007 |
rs28934594
|
1.000 |
0.080 |
16 |
67436620 |
missense variant |
C/T
|
snv
|
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2007 |
rs387907117
|
1.000 |
0.080 |
16 |
67436797 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2007 |
rs1453036708
|
1.000 |
0.080 |
16 |
67436768 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2007 |
rs1309642469
|
1.000 |
0.080 |
16 |
67436294 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs376023420
|
1.000 |
0.080 |
16 |
67436156 |
intron variant |
C/A;G;T
|
snv
|
1.6E-05;
9.3E-05;
1.1E-04
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509434
|
1.000 |
0.080 |
16 |
67436795 |
inframe deletion |
GCT/-
|
del
|
|
1.4E-05
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs768507002
|
0.925 |
0.080 |
16 |
67436034 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs794726670
|
1.000 |
0.080 |
16 |
67436678 |
inframe deletion |
TAC/-
|
delins
|
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs794726684
|
1.000 |
0.080 |
16 |
67431325 |
frameshift variant |
CA/-
|
del
|
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1168255303
|
1.000 |
0.080 |
16 |
67431469 |
missense variant |
G/A;T
|
snv
|
8.0E-05
|
|
Apparent mineralocorticoid excess
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |