COL7A1, collagen type VII alpha 1 chain, 1294
N. diseases: 160; N. variants: 87
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 48568098 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.790 | 0.120 | 3 | 48593554 | stop gained | G/A;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.732 | 0.120 | 3 | 48593538 | missense variant | T/C | snv | 3.2E-05 | 9.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.776 | 0.120 | 3 | 48590721 | stop gained | G/A | snv | 3.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.120 | 3 | 48576249 | splice region variant | C/T | snv | 8.8E-05 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.120 | 3 | 48570639 | splice region variant | C/T | snv | 3.0E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.120 | 3 | 48591527 | stop gained | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.120 | 3 | 48584754 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
0.776 | 0.120 | 3 | 48575437 | missense variant | C/G;T | snv | 8.6E-06; 4.3E-06; 3.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.120 | 3 | 48590817 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 |