|
rs1340806384
|
1.000 |
0.160 |
19 |
45364442 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs140522180
|
1.000 |
0.160 |
19 |
45353112 |
missense variant |
C/A;T
|
snv
|
2.0E-05;
1.9E-04
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs144564120
|
0.925 |
0.160 |
19 |
45352249 |
missense variant |
G/C
|
snv
|
3.1E-04
|
2.9E-04
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1568546120
|
1.000 |
0.160 |
19 |
45368993 |
splice acceptor variant |
C/A
|
snv
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1568546252
|
1.000 |
0.160 |
19 |
45369132 |
stop gained |
C/A
|
snv
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs762309206
|
0.925 |
0.160 |
19 |
45364833 |
splice donor variant |
CACT/-
|
delins
|
|
1.1E-04
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs772572683
|
1.000 |
0.160 |
19 |
45355676 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs964247601
|
1.000 |
0.160 |
19 |
45368692 |
stop gained |
C/A;T
|
snv
|
1.2E-05
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs121913026
|
0.851 |
0.400 |
19 |
45352235 |
missense variant |
G/A
|
snv
|
2.4E-05
|
9.1E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
1996 |
1996 |
|
rs752510317
|
1.000 |
0.160 |
19 |
45352556 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2015 |
2015 |
|
rs746795177
|
1.000 |
0.160 |
19 |
45364121 |
splice acceptor variant |
T/C
|
snv
|
1.3E-05
|
1.4E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
|
rs758439420
|
1.000 |
0.160 |
19 |
45352351 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
1.6E-05
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs121913021
|
0.882 |
0.160 |
19 |
45352580 |
missense variant |
G/A
|
snv
|
2.8E-05
|
4.2E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
|
rs139002770
|
0.925 |
0.200 |
19 |
45352772 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
|
rs238406
|
0.677 |
0.480 |
19 |
45365051 |
synonymous variant |
T/G
|
snv
|
0.58
|
0.65
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
|
rs369012533
|
0.925 |
0.200 |
19 |
45352765 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
|
rs755174338
|
0.732 |
0.360 |
19 |
45364096 |
missense variant |
C/T
|
snv
|
2.6E-05
|
1.4E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
|
rs756340448
|
0.790 |
0.240 |
19 |
45369135 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
|
rs762141272
|
0.882 |
0.160 |
19 |
45352579 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
|
rs767747355
|
1.000 |
0.160 |
19 |
45364838 |
frameshift variant |
GAGT/-
|
delins
|
1.2E-05
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
|
rs776223836
|
0.763 |
0.280 |
19 |
45364045 |
missense variant |
G/A
|
snv
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
|
rs41556519
|
0.807 |
0.400 |
19 |
45352352 |
missense variant |
G/A
|
snv
|
6.0E-05
|
2.8E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
2 |
1996 |
2012 |
|
rs587778271
|
0.925 |
0.160 |
19 |
45353296 |
frameshift variant |
AA/-
|
delins
|
|
2.0E-04
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2001 |
2016 |
|
rs121913020
|
0.882 |
0.160 |
19 |
45368655 |
missense variant |
C/T
|
snv
|
2.0E-05
|
6.3E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
1994 |
2004 |
|
rs121913024
|
0.851 |
0.400 |
19 |
45352802 |
missense variant |
G/A
|
snv
|
5.6E-05
|
3.5E-05
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
1994 |
2004 |