rs121918057
|
0.882 |
0.160 |
1 |
45014803 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
8.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
19 |
1986 |
2011 |
rs121918063
|
1.000 |
0.160 |
1 |
45013928 |
missense variant |
T/G
|
snv
|
4.0E-06
|
7.0E-06
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
10 |
1989 |
2001 |
rs121918064
|
1.000 |
0.160 |
1 |
45014017 |
missense variant |
C/G;T
|
snv
|
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
10 |
1989 |
2001 |
rs121918065
|
1.000 |
0.160 |
1 |
45014976 |
missense variant |
C/A
|
snv
|
|
7.0E-06
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
10 |
1989 |
2001 |
rs121918066
|
1.000 |
0.160 |
1 |
45015389 |
missense variant |
G/A
|
snv
|
2.9E-04
|
2.8E-05
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
10 |
1989 |
2001 |
rs121918058
|
0.925 |
0.160 |
1 |
45013933 |
missense variant |
G/A
|
snv
|
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
19 |
1986 |
2011 |
rs121918059
|
0.882 |
0.160 |
1 |
45014835 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1986 |
2011 |
rs121918060
|
0.925 |
0.160 |
1 |
45013187 |
missense variant |
C/T
|
snv
|
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1986 |
2011 |
rs121918061
|
0.882 |
0.160 |
1 |
45014996 |
missense variant |
A/G;T
|
snv
|
8.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1986 |
2011 |
rs1483459837
|
1.000 |
0.160 |
1 |
45014740 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1989 |
2001 |
rs36033115
|
1.000 |
0.160 |
1 |
45014560 |
missense variant |
T/A
|
snv
|
5.8E-03
|
5.2E-03
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1989 |
2001 |
rs376921379
|
1.000 |
0.160 |
1 |
45013316 |
missense variant |
G/T
|
snv
|
1.2E-05
|
3.5E-05
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1989 |
2001 |
rs762617943
|
1.000 |
0.160 |
1 |
45013784 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1989 |
2001 |
rs763746230
|
1.000 |
0.160 |
1 |
45015365 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1989 |
2001 |
rs764268015
|
1.000 |
0.160 |
1 |
45012960 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1989 |
2001 |
rs769378741
|
0.925 |
0.160 |
1 |
45013140 |
missense variant |
T/A;C
|
snv
|
8.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1986 |
2011 |
rs776907084
|
0.925 |
0.160 |
1 |
45013317 |
missense variant |
C/G
|
snv
|
4.0E-06
|
1.4E-05
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1986 |
2011 |
rs116233118
|
1.000 |
0.160 |
1 |
45015346 |
missense variant |
G/A;T
|
snv
|
1.3E-03
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1182234844
|
1.000 |
0.160 |
1 |
45013742 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121918062
|
1.000 |
0.160 |
1 |
45015006 |
splice region variant |
G/A
|
snv
|
4.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs141312224
|
1.000 |
0.160 |
1 |
45014505 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs145195562
|
0.925 |
0.160 |
1 |
45014071 |
splice donor variant |
G/C
|
snv
|
2.8E-05;
4.0E-06
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs397514764
|
1.000 |
0.160 |
1 |
45012271 |
frameshift variant |
AGCGAATGGG/-
|
del
|
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs397514765
|
1.000 |
0.160 |
1 |
45013663 |
stop gained |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs964670864
|
1.000 |
0.160 |
1 |
45014971 |
missense variant |
G/A
|
snv
|
|
|
Porphyria Cutanea Tarda
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|