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 |
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 |
rs1554699296
|
1.000 |
0.160 |
9 |
97675528 |
frameshift variant |
-/A
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
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 |
rs1554699334
|
1.000 |
0.160 |
9 |
97675584 |
stop gained |
A/T
|
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 |
|
|
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 |
|
|
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 |
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 |
|
|
rs761978351
|
1.000 |
0.160 |
9 |
97684950 |
stop gained |
G/A
|
snv
|
8.0E-06;
8.0E-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 |
|
0 |
|
|
rs764582394
|
1.000 |
0.160 |
9 |
97684950 |
frameshift variant |
-/TTTC
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1554701129
|
1.000 |
0.160 |
9 |
97684964 |
frameshift variant |
-/G
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
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 |
rs1554701139
|
1.000 |
0.160 |
9 |
97684994 |
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 |
|
0 |
|
|
rs755803064
|
1.000 |
0.160 |
9 |
97684997 |
stop gained |
A/C;G
|
snv
|
7.6E-05
|
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 |
|
|
rs1554701144
|
1.000 |
0.160 |
9 |
97685023 |
frameshift variant |
AA/-
|
del
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1554701152
|
1.000 |
0.160 |
9 |
97685033 |
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 |
|
0 |
|
|
rs1554701478
|
1.000 |
0.160 |
9 |
97687094 |
splice donor variant |
A/T
|
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 |
|
|
rs1554701481
|
1.000 |
0.160 |
9 |
97687095 |
splice donor variant |
C/T
|
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 |
|
|
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 |
rs1554701488
|
1.000 |
0.160 |
9 |
97687103 |
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 |
|
0 |
|
|
rs786205205
|
1.000 |
0.160 |
9 |
97687105 |
frameshift variant |
-/TA
|
ins
|
|
|
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 |
|
|
rs781195170
|
1.000 |
0.160 |
9 |
97687174 |
frameshift variant |
CTCT/-;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 |
|
0 |
|
|