|
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 |
|
rs121917782
|
|
|
16 |
67436264 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
APPARENT MINERALOCORTICOID EXCESS, MILD
|
|
0.700 |
|
0 |
|
|
|
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 |
|
|
|
rs794726669
|
|
|
16 |
67435702 |
inframe deletion |
GAGTTG/-
|
delins
|
|
7.0E-06
|
APPARENT MINERALOCORTICOID EXCESS, MILD
|
|
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 |
|
|
|
rs45483293
|
1.000 |
0.040 |
16 |
67436012 |
synonymous variant |
G/A
|
snv
|
3.1E-02
|
2.9E-02
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.020 |
0.500 |
2 |
1998 |
2005 |
|
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 |
|
rs13306425
|
1.000 |
0.040 |
16 |
67435802 |
missense variant |
G/A
|
snv
|
2.0E-04
|
1.8E-04
|
Essential Hypertension
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
|
rs370615893
|
1.000 |
0.040 |
16 |
67436789 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
3.5E-05
|
Essential Hypertension
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
|
rs45483293
|
1.000 |
0.040 |
16 |
67436012 |
synonymous variant |
G/A
|
snv
|
3.1E-02
|
2.9E-02
|
Essential Hypertension
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
|
rs5479
|
0.925 |
0.080 |
16 |
67435830 |
synonymous variant |
C/A;G;T
|
snv
|
5.4E-02;
8.0E-06;
4.0E-06
|
|
Schizophrenia
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2015 |
2015 |
|
rs5479
|
0.925 |
0.080 |
16 |
67435830 |
synonymous variant |
C/A;G;T
|
snv
|
5.4E-02;
8.0E-06;
4.0E-06
|
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
|
rs5479
|
0.925 |
0.080 |
16 |
67435830 |
synonymous variant |
C/A;G;T
|
snv
|
5.4E-02;
8.0E-06;
4.0E-06
|
|
Stress, Psychological
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
|
rs56303414
|
0.925 |
0.080 |
16 |
67432532 |
intron variant |
C/G
|
snv
|
|
0.55
|
Stress, Psychological
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2015 |
2015 |