rs118204094
|
1.000 |
0.160 |
11 |
119089991 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.830 |
1.000 |
22 |
1991 |
2015 |
rs118204095
|
1.000 |
0.160 |
11 |
119091414 |
missense variant |
G/A;T
|
snv
|
4.5E-05
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
21 |
1991 |
2019 |
rs536814318
|
1.000 |
0.160 |
11 |
119091446 |
missense variant |
G/A
|
snv
|
5.0E-04
|
2.8E-05
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
21 |
1991 |
2015 |
rs118204096
|
1.000 |
0.160 |
11 |
119091432 |
missense variant |
G/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1991 |
2015 |
rs118204098
|
1.000 |
0.160 |
11 |
119090213 |
missense variant |
G/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1991 |
2015 |
rs118204099
|
1.000 |
0.160 |
11 |
119092486 |
missense variant |
T/G
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
20 |
1991 |
2015 |
rs118204109
|
1.000 |
0.160 |
11 |
119091515 |
missense variant |
C/T
|
snv
|
2.6E-05
|
3.5E-05
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
4 |
1994 |
2015 |
rs118204117
|
1.000 |
0.160 |
11 |
119092958 |
stop gained |
G/A;C
|
snv
|
1.2E-05
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.730 |
1.000 |
3 |
1994 |
2001 |
rs575222284
|
1.000 |
0.160 |
11 |
119091431 |
missense variant |
C/T
|
snv
|
1.3E-05
|
7.0E-06
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.730 |
1.000 |
3 |
1997 |
2006 |
rs118204100
|
1.000 |
0.160 |
11 |
119091507 |
stop gained |
G/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.720 |
1.000 |
2 |
1994 |
2000 |
rs118204101
|
1.000 |
0.160 |
11 |
119091413 |
missense variant |
C/T
|
snv
|
3.8E-05
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.720 |
1.000 |
2 |
2000 |
2005 |
rs1205219549
|
1.000 |
0.160 |
11 |
119092156 |
missense variant |
T/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
20 |
1991 |
2015 |
rs118204107
|
1.000 |
0.160 |
11 |
119089747 |
missense variant |
G/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
1999 |
1999 |
rs1261947877
|
1.000 |
0.160 |
11 |
119092416 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
1998 |
1998 |
rs761004837
|
1.000 |
0.160 |
11 |
119089097 |
missense variant |
C/T
|
snv
|
1.1E-04
|
4.9E-05
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs974712040
|
1.000 |
0.160 |
11 |
119088651 |
missense variant |
C/T
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2000 |
2000 |
rs1057521126
|
1.000 |
0.160 |
11 |
119092785 |
missense variant |
G/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1991 |
2015 |
rs1165046276
|
1.000 |
0.160 |
11 |
119089992 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1991 |
2015 |
rs142459647
|
1.000 |
0.160 |
11 |
119092426 |
missense variant |
G/A
|
snv
|
1.7E-04
|
2.2E-04
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1991 |
2015 |
rs150763621
|
1.000 |
0.160 |
11 |
119089263 |
stop gained |
A/T
|
snv
|
8.3E-04
|
5.0E-04
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1991 |
2015 |
rs998842815
|
1.000 |
0.160 |
11 |
119088297 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
20 |
1991 |
2015 |
rs1007859875
|
1.000 |
0.160 |
11 |
119092137 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs118204097
|
1.000 |
0.160 |
11 |
119090230 |
stop gained |
C/T
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs118204103
|
1.000 |
0.160 |
11 |
119088298 |
missense variant |
G/A
|
snv
|
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs118204104
|
1.000 |
0.160 |
11 |
119088638 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|