rs1555617934
|
1.000 |
0.120 |
17 |
61857232 |
splice acceptor variant |
C/A
|
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 |
rs1567756032
|
1.000 |
0.120 |
17 |
61716064 |
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 |
rs574552037
|
1.000 |
0.120 |
17 |
61716043 |
stop gained |
G/A;C
|
snv
|
3.3E-04;
2.4E-05;
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 |
3 |
2005 |
2015 |
rs587780240
|
1.000 |
0.120 |
17 |
61715948 |
splice donor variant |
-/A
|
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 |
3 |
2005 |
2016 |
rs587782410
|
0.882 |
0.280 |
17 |
61685976 |
stop gained |
A/C
|
snv
|
1.2E-05
|
1.4E-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 |
3 |
2015 |
2016 |
rs587782539
|
0.925 |
0.200 |
17 |
61686166 |
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 |
rs763009188
|
0.925 |
0.240 |
17 |
61857144 |
frameshift variant |
TTGT/-
|
delins
|
8.0E-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 |
3 |
2005 |
2011 |
rs764803896
|
1.000 |
0.120 |
17 |
61744570 |
missense variant |
G/A
|
snv
|
2.8E-05
|
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 |
3 |
2005 |
2010 |
rs778664039
|
0.925 |
0.240 |
17 |
61683653 |
frameshift variant |
AGAT/-
|
delins
|
3.6E-05
|
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 |
3 |
2010 |
2016 |
rs780020495
|
0.882 |
0.240 |
17 |
61780893 |
stop gained |
G/A
|
snv
|
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 |
3 |
2015 |
2018 |
rs786202610
|
0.925 |
0.240 |
17 |
61808495 |
frameshift variant |
T/-
|
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 |
2015 |
2016 |
rs786202941
|
1.000 |
0.120 |
17 |
61776400 |
splice donor 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 |
3 |
2005 |
2011 |
rs786203451
|
0.925 |
0.200 |
17 |
61693513 |
splice acceptor variant |
C/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
|
0.700 |
1.000 |
3 |
2005 |
2011 |
rs876659707
|
0.925 |
0.200 |
17 |
61847222 |
splice acceptor variant |
T/A
|
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 |
rs876660203
|
0.882 |
0.280 |
17 |
61685835 |
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 |
rs1060501774
|
0.925 |
0.200 |
17 |
61683718 |
stop gained |
C/A
|
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 |
2 |
2010 |
2011 |
rs1420431000
|
0.925 |
0.200 |
17 |
61683816 |
stop gained |
A/C
|
snv
|
|
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 |
2 |
2010 |
2011 |
rs1555572698
|
0.925 |
0.200 |
17 |
61683736 |
stop gained |
C/A
|
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 |
2 |
2010 |
2011 |
rs587780228
|
0.882 |
0.280 |
17 |
61793698 |
stop gained |
C/A;G
|
snv
|
4.0E-06
|
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 |
2 |
2016 |
2016 |
rs587780236
|
0.882 |
0.280 |
17 |
61743118 |
frameshift variant |
-/A
|
delins
|
8.0E-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 |
2 |
2016 |
2016 |
rs587781292
|
0.882 |
0.280 |
17 |
61859868 |
stop gained |
C/A;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
|
0.700 |
1.000 |
2 |
2014 |
2015 |
rs587781416
|
1.000 |
0.120 |
17 |
61849241 |
frameshift variant |
-/T
|
delins
|
8.0E-06;
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 |
2 |
2015 |
2016 |
rs587782065
|
1.000 |
0.120 |
17 |
61859860 |
frameshift variant |
G/-
|
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 |
2 |
2006 |
2016 |
rs730881633
|
1.000 |
0.120 |
17 |
61801327 |
stop gained |
G/A;C
|
snv
|
8.0E-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 |
2 |
2016 |
2017 |
rs748598593
|
0.925 |
0.200 |
17 |
61683838 |
frameshift variant |
A/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2010 |
2011 |