rs121913016
|
0.827 |
0.160 |
19 |
45357368 |
missense variant |
G/C
|
snv
|
1.2E-03
|
4.4E-04
|
Xeroderma Pigmentosum, Complementation Group D
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.720 |
1.000 |
8 |
1994 |
2004 |
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 |
rs753641926
|
1.000 |
0.160 |
19 |
45353113 |
missense variant |
G/A;T
|
snv
|
4.4E-05;
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 |
1.000 |
7 |
1994 |
2004 |
rs771824813
|
1.000 |
0.160 |
19 |
45353109 |
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 |
1.000 |
7 |
1994 |
2004 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
|
rs1360631927
|
0.851 |
0.200 |
19 |
45369114 |
missense variant |
C/T
|
snv
|
|
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
|
0.710 |
1.000 |
8 |
1994 |
2015 |
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 |
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 |
rs121913019
|
0.925 |
0.240 |
19 |
45354774 |
missense variant |
T/C;G
|
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
|
0.710 |
1.000 |
8 |
1994 |
2016 |
rs121913025
|
0.925 |
0.240 |
19 |
45357295 |
missense variant |
A/G
|
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 |
1.000 |
7 |
1994 |
2004 |
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 |