rs121918324
|
0.925 |
0.160 |
1 |
161167187 |
missense variant |
C/T
|
snv
|
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.880 |
1.000 |
25 |
1996 |
2013 |
rs121918323
|
1.000 |
0.160 |
1 |
161169070 |
missense variant |
G/C
|
snv
|
|
|
Variegate 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 |
1996 |
2013 |
rs121918325
|
1.000 |
0.160 |
1 |
161168462 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Variegate 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 |
1996 |
2013 |
rs121918326
|
1.000 |
0.160 |
1 |
161166906 |
missense variant |
A/C
|
snv
|
|
|
Variegate 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 |
1996 |
2013 |
rs1361576529
|
1.000 |
0.160 |
1 |
161171039 |
missense variant |
G/C
|
snv
|
|
|
Variegate 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 |
1996 |
2013 |
rs141274934
|
1.000 |
0.160 |
1 |
161170711 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Variegate 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 |
1996 |
2013 |
rs374936130
|
1.000 |
0.160 |
1 |
161170493 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Variegate 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 |
1996 |
2013 |
rs757473753
|
1.000 |
0.160 |
1 |
161168492 |
missense variant |
C/G
|
snv
|
4.0E-06
|
7.0E-06
|
Variegate 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 |
1996 |
2013 |
rs764352037
|
1.000 |
0.160 |
1 |
161167181 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Variegate 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 |
1996 |
2013 |
rs767419411
|
0.882 |
0.200 |
1 |
161168069 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
8.0E-06
|
|
Variegate 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 |
1996 |
2013 |
rs769452432
|
1.000 |
0.160 |
1 |
161166892 |
missense variant |
G/T
|
snv
|
|
|
Variegate 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 |
1996 |
2013 |
rs776530007
|
1.000 |
0.160 |
1 |
161170724 |
missense variant |
A/C;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Variegate 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 |
1996 |
2013 |
rs1558033572
|
1.000 |
0.160 |
1 |
161169903 |
splice acceptor variant |
TA/-
|
del
|
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1991 |
2001 |
rs1317835140
|
1.000 |
0.160 |
1 |
161167131 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs28936676
|
0.925 |
0.160 |
1 |
161170467 |
stop lost |
A/C
|
snv
|
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs369381477
|
1.000 |
0.160 |
1 |
161168072 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs41270025
|
1.000 |
0.160 |
1 |
161168463 |
missense variant |
G/A;T
|
snv
|
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs751599052
|
1.000 |
0.160 |
1 |
161169025 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
6.4E-05
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs786204784
|
1.000 |
0.160 |
1 |
161167209 |
frameshift variant |
C/-
|
delins
|
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs900431442
|
1.000 |
0.160 |
1 |
161170464 |
missense variant |
A/G
|
snv
|
|
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs928944841
|
1.000 |
0.160 |
1 |
161171099 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Variegate Porphyria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|