|
rs1555206402
|
0.790 |
0.320 |
11 |
119093274 |
stop lost |
GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-
|
delins
|
|
|
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 |
|
|
|
rs1565754285
|
1.000 |
0.160 |
11 |
119089094 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
|
|
|
rs1565754296
|
1.000 |
0.160 |
11 |
119089098 |
frameshift variant |
-/G
|
delins
|
|
|
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 |
|
|
|
rs1565754452
|
1.000 |
0.160 |
11 |
119089216 |
splice acceptor 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 |
|
|
|
rs1565754565
|
1.000 |
0.160 |
11 |
119089273 |
splice donor variant |
G/C
|
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 |
|
|
|
rs1565756481
|
1.000 |
0.160 |
11 |
119091412 |
splice acceptor 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 |
|
|
|
rs1565757839
|
1.000 |
0.160 |
11 |
119092480 |
frameshift variant |
CT/-
|
delins
|
|
|
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 |
|
|
|
rs1565757857
|
1.000 |
0.160 |
11 |
119092481 |
frameshift variant |
-/TTCGCTGC
|
delins
|
|
|
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 |
|
|
|
rs1565758008
|
1.000 |
0.160 |
11 |
119092524 |
splice donor variant |
G/C
|
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 |
|
|
|
rs1565758795
|
1.000 |
0.160 |
11 |
119092999 |
frameshift variant |
-/T
|
delins
|
|
|
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 |
|
|
|
rs1565758825
|
1.000 |
0.160 |
11 |
119093009 |
frameshift variant |
T/-
|
del
|
|
|
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 |
|
|
|
rs990831395
|
1.000 |
0.160 |
11 |
119092765 |
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 |
|
|
|
rs772471000
|
1.000 |
0.160 |
11 |
119092146 |
missense variant |
A/G
|
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 |
|
0 |
|
|
|
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 |
|
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 |
|
|
|
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 |
|
rs189159450
|
1.000 |
0.160 |
11 |
119088285 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.6E-05
|
2.1E-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 |
|
|
|
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 |
|
rs118204114
|
1.000 |
0.160 |
11 |
119092507 |
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 |
|
0 |
|
|
|
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 |
|
rs34413634
|
1.000 |
0.160 |
11 |
119091497 |
missense variant |
C/T
|
snv
|
6.4E-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
|
0.700 |
|
0 |
|
|
|
rs780020705
|
1.000 |
0.160 |
11 |
119092783 |
missense variant |
C/G
|
snv
|
8.0E-06
|
|
Acute intermittent porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
|
rs118204113
|
1.000 |
0.160 |
11 |
119092506 |
missense variant |
G/A
|
snv
|
8.0E-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 |
|
|
|
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 |
|
rs551209435
|
1.000 |
0.160 |
11 |
119090041 |
missense variant |
G/C
|
snv
|
1.2E-05
|
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
|
0.010 |
1.000 |
1 |
2013 |
2013 |