rs376556895
|
0.851 |
0.400 |
19 |
45352801 |
missense variant |
C/G;T
|
snv
|
1.5E-04;
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
|
0.810 |
1.000 |
15 |
1994 |
2016 |
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 |
rs13181
|
0.487 |
0.760 |
19 |
45351661 |
stop gained |
T/A;G
|
snv
|
4.0E-06;
0.32
|
|
Carcinoma of lung
|
Neoplasms; Respiratory Tract Diseases
|
0.800 |
0.963 |
27 |
2003 |
2019 |
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 |
rs121913018
|
1.000 |
0.080 |
19 |
45352226 |
missense variant |
C/G
|
snv
|
2.0E-05
|
4.2E-05
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1994 |
2001 |
rs121913020
|
0.882 |
0.160 |
19 |
45368655 |
missense variant |
C/T
|
snv
|
2.0E-05
|
6.3E-05
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1994 |
2001 |
rs121913021
|
0.882 |
0.160 |
19 |
45352580 |
missense variant |
G/A
|
snv
|
2.8E-05
|
4.2E-05
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1994 |
2001 |
rs121913022
|
1.000 |
0.080 |
19 |
45352262 |
missense variant |
C/G
|
snv
|
|
1.4E-05
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1994 |
2001 |
rs121913026
|
0.851 |
0.400 |
19 |
45352235 |
missense variant |
G/A
|
snv
|
2.4E-05
|
9.1E-05
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1994 |
2001 |
rs376556895
|
0.851 |
0.400 |
19 |
45352801 |
missense variant |
C/G;T
|
snv
|
1.5E-04;
8.0E-06
|
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
6 |
1994 |
2001 |
rs121913023
|
0.851 |
0.400 |
19 |
45352511 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Cerebrooculofacioskeletal Syndrome 2
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs121913024
|
0.851 |
0.400 |
19 |
45352802 |
missense variant |
G/A
|
snv
|
5.6E-05
|
3.5E-05
|
Cerebrooculofacioskeletal Syndrome 2
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
1 |
2001 |
2001 |
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 |
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 |
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 |
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 |
rs121913023
|
0.851 |
0.400 |
19 |
45352511 |
missense variant |
C/T
|
snv
|
2.0E-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 |
7 |
1994 |
2004 |
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 |
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 |
rs121913016
|
0.827 |
0.160 |
19 |
45357368 |
missense variant |
G/C
|
snv
|
1.2E-03
|
4.4E-04
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
1994 |
2001 |
rs370454709
|
1.000 |
0.080 |
19 |
45364274 |
missense variant |
C/T
|
snv
|
5.6E-05
|
4.2E-05
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
1994 |
2001 |
rs762141272
|
0.882 |
0.160 |
19 |
45352579 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Photosensitive Trichothiodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
1994 |
2001 |