rs746617574
|
1.000 |
0.160 |
9 |
97687096 |
missense variant |
C/G
|
snv
|
1.2E-05
|
2.1E-05
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1992 |
2015 |
rs750218942
|
1.000 |
0.160 |
9 |
97687262 |
splice acceptor variant |
C/G
|
snv
|
1.2E-05
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
1990 |
2017 |
rs104894131
|
1.000 |
0.160 |
9 |
97689600 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1992 |
1999 |
rs144725456
|
1.000 |
0.160 |
9 |
97675530 |
missense variant |
T/C
|
snv
|
1.3E-04
|
7.7E-05
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1992 |
1999 |
rs104894132
|
0.925 |
0.160 |
9 |
97675579 |
stop gained |
G/A
|
snv
|
3.0E-04
|
3.2E-04
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1992 |
2010 |
rs149226993
|
0.925 |
0.160 |
9 |
97684965 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1992 |
2017 |
rs104894133
|
1.000 |
0.160 |
9 |
97684977 |
stop gained |
G/A
|
snv
|
2.4E-05
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1998 |
2017 |
rs1200172747
|
0.925 |
0.160 |
9 |
97689570 |
frameshift variant |
TAAGA/-
|
delins
|
4.0E-06
|
2.1E-05
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1998 |
2016 |
rs104894132
|
0.925 |
0.160 |
9 |
97675579 |
stop gained |
G/A
|
snv
|
3.0E-04
|
3.2E-04
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2010 |
2017 |
rs1200172747
|
0.925 |
0.160 |
9 |
97689570 |
frameshift variant |
TAAGA/-
|
delins
|
4.0E-06
|
2.1E-05
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2009 |
2015 |
rs149226993
|
0.925 |
0.160 |
9 |
97684965 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1992 |
2017 |
rs1554701103
|
0.925 |
0.160 |
9 |
97684929 |
frameshift variant |
-/T
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1995 |
1998 |
rs769255883
|
1.000 |
0.160 |
9 |
97689592 |
stop gained |
C/A;G;T
|
snv
|
1.2E-05;
5.6E-05
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2012 |
2017 |
rs1554701103
|
0.925 |
0.160 |
9 |
97684929 |
frameshift variant |
-/T
|
delins
|
|
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1554701532
|
1.000 |
0.160 |
9 |
97687200 |
stop gained |
T/A
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554701540
|
1.000 |
0.160 |
9 |
97687222 |
frameshift variant |
CT/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs752573039
|
1.000 |
0.160 |
9 |
97675486 |
frameshift variant |
-/A
|
delins
|
2.0E-05
|
2.1E-05
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs778543124
|
0.716 |
0.320 |
9 |
97675476 |
frameshift variant |
AGTCTTACGGTACA/-
|
delins
|
6.8E-05
|
6.3E-05
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs886039226
|
1.000 |
0.160 |
9 |
97689585 |
stop gained |
ATAA/TTTCTTATG
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1019535182
|
1.000 |
0.160 |
9 |
97684921 |
splice donor variant |
A/G
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs104894134
|
1.000 |
0.160 |
9 |
97689575 |
stop gained |
A/G;T
|
snv
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057519018
|
1.000 |
0.160 |
9 |
97684947 |
frameshift variant |
CT/-
|
delins
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1240801740
|
1.000 |
0.160 |
9 |
97687191 |
stop gained |
CA/-
|
delins
|
4.0E-06
|
7.0E-06
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1253496792
|
1.000 |
0.160 |
9 |
97697291 |
start lost |
A/G
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1326841833
|
1.000 |
0.160 |
9 |
97687118 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|