rs374117852
|
0.925 |
0.160 |
3 |
14152376 |
stop gained |
T/A
|
snv
|
|
3.5E-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 |
2006 |
2013 |
rs752088918
|
0.925 |
0.160 |
3 |
14167223 |
frameshift variant |
AT/-
|
delins
|
2.4E-05
|
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 |
2000 |
2007 |
rs754532049
|
0.925 |
0.160 |
3 |
14158239 |
frameshift variant |
CA/-
|
delins
|
2.0E-05
|
3.5E-05
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2016 |
rs754673606
|
0.925 |
0.160 |
3 |
14148732 |
splice acceptor variant |
C/G;T
|
snv
|
2.4E-05
|
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs755825264
|
1.000 |
0.160 |
3 |
14168330 |
stop gained |
G/A;C
|
snv
|
1.6E-05;
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 |
2006 |
2013 |
rs2228000
|
0.585 |
0.560 |
3 |
14158387 |
missense variant |
G/A
|
snv
|
0.24
|
0.21
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs2228001
|
0.570 |
0.480 |
3 |
14145949 |
missense variant |
G/T
|
snv
|
0.63
|
0.65
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs552453137
|
0.925 |
0.160 |
3 |
14165512 |
missense variant |
A/G
|
snv
|
2.0E-05
|
7.0E-06
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs757958943
|
0.925 |
0.160 |
3 |
14158640 |
stop gained |
G/A
|
snv
|
1.2E-05
|
4.9E-05
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs776865296
|
1.000 |
0.160 |
3 |
14158463 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs77907221
|
0.882 |
0.160 |
3 |
14154795 |
intron variant |
AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/-
|
delins
|
|
|
Xeroderma Pigmentosum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |