rs74737358
|
0.925 |
0.160 |
3 |
14158882 |
missense variant |
G/A;T
|
snv
|
8.1E-06;
2.6E-03
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs121965088
|
1.000 |
0.160 |
3 |
14158148 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
2000 |
2015 |
rs754532049
|
0.925 |
0.160 |
3 |
14158239 |
frameshift variant |
CA/-
|
delins
|
2.0E-05
|
3.5E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
2008 |
2010 |
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 |
rs745679643
|
1.000 |
0.160 |
3 |
14165549 |
stop gained |
G/A
|
snv
|
2.0E-05
|
1.4E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2000 |
2015 |
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 |
rs752088918
|
0.925 |
0.160 |
3 |
14167223 |
frameshift variant |
AT/-
|
delins
|
2.4E-05
|
2.1E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2000 |
2006 |
rs754775337
|
1.000 |
0.160 |
3 |
14148912 |
stop gained |
G/A
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2000 |
2015 |
rs757958943
|
0.925 |
0.160 |
3 |
14158640 |
stop gained |
G/A
|
snv
|
1.2E-05
|
4.9E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs1330667099
|
1.000 |
0.160 |
3 |
14168370 |
frameshift variant |
CACT/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2016 |
rs1402162002
|
1.000 |
0.160 |
3 |
14168347 |
frameshift variant |
TC/-
|
delins
|
1.2E-05
|
7.0E-06
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs1553604559
|
1.000 |
0.160 |
3 |
14148695 |
frameshift variant |
G/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs201940931
|
1.000 |
0.160 |
3 |
14165587 |
splice acceptor variant |
T/C;G
|
snv
|
4.0E-06;
1.2E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2007 |
rs373519125
|
1.000 |
0.160 |
3 |
14164836 |
stop gained |
G/A;T
|
snv
|
1.6E-05;
1.6E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2016 |
2017 |
rs374117852
|
0.925 |
0.160 |
3 |
14152376 |
stop gained |
T/A
|
snv
|
|
3.5E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2013 |
rs746250060
|
1.000 |
0.160 |
3 |
14158319 |
stop gained |
T/A;C
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2015 |
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 |
rs767569346
|
1.000 |
0.160 |
3 |
14158206 |
stop gained |
G/A;C;T
|
snv
|
1.2E-05;
4.0E-06
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs794729654
|
1.000 |
0.160 |
3 |
14158590 |
frameshift variant |
TT/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2016 |
rs113043636
|
|
|
3 |
14166025 |
intron variant |
C/T
|
snv
|
|
1.5E-02
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1228981894
|
1.000 |
0.160 |
3 |
14170507 |
frameshift variant |
CT/-
|
delins
|
4.0E-06
|
7.0E-06
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1260189637
|
1.000 |
0.160 |
3 |
14173038 |
frameshift variant |
G/-
|
delins
|
|
1.4E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1450238352
|
1.000 |
0.160 |
3 |
14158779 |
frameshift variant |
TT/-
|
del
|
|
2.1E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |