rs1060501887
|
0.925 |
0.120 |
16 |
89738881 |
splice donor variant |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1188581065
|
1.000 |
0.120 |
16 |
89767140 |
splice donor variant |
C/A
|
snv
|
|
7.0E-06
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1216426444
|
1.000 |
0.120 |
16 |
89764940 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121907930
|
1.000 |
0.120 |
16 |
89810716 |
stop gained |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1232171121
|
0.925 |
0.120 |
16 |
89814519 |
splice donor variant |
C/A;T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1348367722
|
1.000 |
0.120 |
16 |
89799192 |
frameshift variant |
-/GACT
|
delins
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1388128874
|
1.000 |
0.120 |
16 |
89803342 |
splice acceptor variant |
C/A;G
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs141422170
|
1.000 |
0.120 |
16 |
89745049 |
missense variant |
G/C
|
snv
|
3.3E-05
|
4.9E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs142833057
|
1.000 |
0.120 |
16 |
89746615 |
missense variant |
G/A;T
|
snv
|
4.8E-05;
2.0E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1432988639
|
0.925 |
0.120 |
16 |
89740803 |
splice donor variant |
C/A;G;T
|
snv
|
1.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1458001028
|
1.000 |
0.120 |
16 |
89764888 |
splice donor variant |
A/G
|
snv
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1477653630
|
1.000 |
0.120 |
16 |
89808368 |
splice acceptor variant |
C/A;G
|
snv
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs147945881
|
1.000 |
0.120 |
16 |
89805393 |
splice acceptor variant |
C/G
|
snv
|
4.0E-06
|
7.0E-06
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1483028018
|
1.000 |
0.120 |
16 |
89816536 |
splice donor variant |
C/G;T
|
snv
|
1.1E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1485075318
|
1.000 |
0.120 |
16 |
89773385 |
splice acceptor variant |
C/A;T
|
snv
|
6.4E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs149551759
|
1.000 |
0.120 |
16 |
89791422 |
stop gained |
G/A;C
|
snv
|
3.8E-04
|
2.8E-04
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs149797103
|
0.925 |
0.120 |
16 |
89744961 |
splice region variant |
G/A
|
snv
|
9.7E-05
|
7.0E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs149851163
|
1.000 |
0.120 |
16 |
89738943 |
missense variant |
C/T
|
snv
|
3.6E-05
|
2.8E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555532943
|
1.000 |
0.120 |
16 |
89738880 |
splice donor variant |
A/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555532944
|
1.000 |
0.120 |
16 |
89738880 |
frameshift variant |
-/C
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555532946
|
1.000 |
0.120 |
16 |
89738884 |
frameshift variant |
-/T
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555533693
|
1.000 |
0.120 |
16 |
89739554 |
splice acceptor variant |
C/A
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555534060
|
1.000 |
0.120 |
16 |
89740037 |
frameshift variant |
-/T
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555535472
|
1.000 |
0.120 |
16 |
89742820 |
frameshift variant |
G/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555536361
|
1.000 |
0.120 |
16 |
89744972 |
frameshift variant |
GGCC/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|