rs786202760
|
0.925 |
0.200 |
17 |
61776557 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
3 |
2005 |
2010 |
rs137852986
|
0.732 |
0.440 |
17 |
61716051 |
stop gained |
G/A
|
snv
|
1.7E-04
|
1.5E-04
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
18 |
2005 |
2018 |
rs786203717
|
0.925 |
0.240 |
17 |
61684051 |
frameshift variant |
CTTT/-
|
delins
|
1.6E-05
|
2.8E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
7 |
2008 |
2018 |
rs587778134
|
0.851 |
0.320 |
17 |
61776459 |
frameshift variant |
AA/-;AAAA
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2011 |
2016 |
rs587781321
|
0.882 |
0.280 |
17 |
61780325 |
stop gained |
G/A;T
|
snv
|
1.6E-05;
2.0E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2014 |
2016 |
rs730881649
|
0.882 |
0.280 |
17 |
61744433 |
frameshift variant |
TT/-
|
delins
|
1.2E-05
|
3.5E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs756853672
|
0.925 |
0.200 |
17 |
61683645 |
frameshift variant |
G/-
|
delins
|
1.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs149364097
|
0.925 |
0.120 |
17 |
61801348 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs587780833
|
0.925 |
0.200 |
17 |
61847100 |
splice donor variant |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs587782047
|
0.925 |
0.200 |
17 |
61861446 |
splice donor variant |
C/A;T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs1295703239
|
0.925 |
0.200 |
17 |
61685952 |
frameshift variant |
AGAT/-;AGATAGAT
|
delins
|
|
7.0E-06
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2008 |
2011 |
rs1555573327
|
0.925 |
0.200 |
17 |
61685949 |
frameshift variant |
G/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2008 |
2011 |
rs587780226
|
0.882 |
0.280 |
17 |
61799125 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2016 |
2017 |
rs587781655
|
1.000 |
0.120 |
17 |
61808466 |
splice donor variant |
C/T
|
snv
|
1.6E-05
|
5.6E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2005 |
2015 |
rs730881645
|
0.882 |
0.280 |
17 |
61683850 |
frameshift variant |
A/-
|
del
|
2.0E-05
|
5.6E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs771028677
|
0.882 |
0.280 |
17 |
61684053 |
frameshift variant |
TGTT/-;TGTTTGTT
|
delins
|
|
2.1E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2008 |
2016 |
rs775537066
|
0.925 |
0.200 |
17 |
61776487 |
frameshift variant |
-/A
|
delins
|
8.0E-06
|
2.1E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2016 |
rs779741278
|
0.925 |
0.240 |
17 |
61683805 |
frameshift variant |
-/A
|
delins
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2010 |
2016 |
rs786203700
|
0.882 |
0.280 |
17 |
61857233 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2005 |
2016 |
rs864622277
|
0.925 |
0.240 |
17 |
61847221 |
splice acceptor variant |
C/G
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2005 |
2016 |
rs869312763
|
0.925 |
0.200 |
17 |
61686167 |
splice acceptor variant |
T/C
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2005 |
2016 |
rs1057519365
|
0.851 |
0.320 |
17 |
61780931 |
frameshift variant |
TT/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2016 |
rs1064793887
|
0.925 |
0.240 |
17 |
61743135 |
splice acceptor variant |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2011 |
rs1555607022
|
0.925 |
0.200 |
17 |
61799099 |
splice donor variant |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2011 |
rs1555607628
|
0.925 |
0.200 |
17 |
61801252 |
splice donor variant |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2011 |