rs121917783
|
0.851 |
0.200 |
9 |
95150056 |
stop gained |
G/A
|
snv
|
5.6E-05
|
1.0E-04
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
4 |
1993 |
2012 |
rs104886457
|
0.882 |
0.240 |
9 |
95101742 |
stop gained |
G/A
|
snv
|
5.2E-05
|
7.7E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
7 |
1993 |
2017 |
rs121917784
|
0.925 |
0.120 |
9 |
95249255 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
1993 |
2015 |
rs730881710
|
0.925 |
0.120 |
9 |
95107211 |
frameshift variant |
AG/-
|
delins
|
4.0E-06
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
1993 |
2016 |
rs104886456
|
0.925 |
0.120 |
9 |
95172033 |
splice region variant |
T/A
|
snv
|
2.9E-04
|
2.1E-04
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1993 |
2000 |
rs1564641485
|
1.000 |
0.120 |
9 |
95107197 |
frameshift variant |
AGGTCCTGGGC/-
|
delins
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1993 |
2014 |
rs104886459
|
0.925 |
0.120 |
9 |
95249225 |
frameshift variant |
C/-
|
delins
|
1.2E-04
|
1.5E-04
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
1996 |
2016 |
rs769039987
|
0.925 |
0.120 |
9 |
95150074 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2016 |
rs1057517219
|
0.925 |
0.120 |
9 |
95240745 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs145394391
|
0.925 |
0.120 |
9 |
95171078 |
splice donor variant |
C/T
|
snv
|
8.0E-06
|
3.5E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs730881708
|
0.925 |
0.120 |
9 |
95171110 |
frameshift variant |
CTCT/-;CT
|
delins
|
|
1.4E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs774170058
|
0.925 |
0.120 |
9 |
95172037 |
frameshift variant |
-/T
|
delins
|
1.6E-05
|
7.0E-06
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs774209201
|
0.925 |
0.120 |
9 |
95126582 |
splice acceptor variant |
C/G
|
snv
|
8.0E-06
|
1.4E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1057516291
|
0.925 |
0.120 |
9 |
95240655 |
stop gained |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1554829415
|
1.000 |
0.120 |
9 |
95111394 |
coding sequence variant |
-/CTCTGCAAGCTCCTCTCAGCCCCCCAGAGCCCACCCCAAACACATGCAGTGGGGCCTGCTACCCACCATAGTCTGTGCTCTCTGCT
|
delins
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1554829441
|
0.925 |
0.120 |
9 |
95111462 |
splice donor variant |
C/A
|
snv
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1554833186
|
1.000 |
0.120 |
9 |
95126528 |
splice donor variant |
C/G
|
snv
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1554842611
|
1.000 |
0.120 |
9 |
95171114 |
frameshift variant |
-/C
|
delins
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1564720605
|
1.000 |
0.120 |
9 |
95172103 |
frameshift variant |
TT/-
|
del
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs370510954
|
0.925 |
0.120 |
9 |
95125085 |
splice donor variant |
C/A;T
|
snv
|
8.0E-06
|
7.0E-06
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs371897078
|
0.925 |
0.120 |
9 |
95111630 |
stop gained |
C/A;T
|
snv
|
8.0E-06;
3.2E-05
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587779904
|
0.925 |
0.120 |
9 |
95172133 |
frameshift variant |
ATGAGA/T
|
delins
|
1.2E-05
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587779909
|
0.925 |
0.120 |
9 |
95135345 |
splice donor variant |
C/G;T
|
snv
|
8.0E-06
|
2.1E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs730881709
|
0.925 |
0.120 |
9 |
95111489 |
frameshift variant |
-/A
|
delins
|
4.0E-06
|
2.1E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs730881731
|
0.925 |
0.120 |
9 |
95240675 |
stop gained |
G/A
|
snv
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|