rs778093769
|
1.000 |
0.120 |
16 |
89778947 |
missense variant |
C/T
|
snv
|
1.5E-04
|
2.8E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1278836130
|
1.000 |
0.120 |
16 |
89758648 |
frameshift variant |
T/-
|
del
|
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 |
1.000 |
1 |
2018 |
2018 |
rs1365019056
|
1.000 |
0.120 |
16 |
89810706 |
splice donor variant |
C/A
|
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 |
1.000 |
1 |
2018 |
2018 |
rs183350210
|
1.000 |
0.120 |
16 |
89814615 |
splice acceptor variant |
T/A
|
snv
|
2.0E-05
|
2.1E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555535527
|
1.000 |
0.120 |
16 |
89742869 |
frameshift variant |
A/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555545553
|
1.000 |
0.120 |
16 |
89765037 |
frameshift variant |
TG/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs587783028
|
0.925 |
0.120 |
16 |
89752137 |
splice donor variant |
C/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 |
1.000 |
1 |
2015 |
2015 |
rs1484087361
|
1.000 |
0.120 |
16 |
89816605 |
stop gained |
G/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 |
1.000 |
1 |
2014 |
2014 |
rs1555561294
|
1.000 |
0.120 |
16 |
89791402 |
splice donor variant |
C/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 |
1.000 |
1 |
2014 |
2014 |
rs1555564436
|
1.000 |
0.120 |
16 |
89795905 |
splice donor 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 |
1.000 |
1 |
2014 |
2014 |
rs758528624
|
1.000 |
0.120 |
16 |
89808341 |
stop gained |
C/A;T
|
snv
|
8.0E-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 |
1.000 |
1 |
2014 |
2014 |
rs751266148
|
1.000 |
0.120 |
16 |
89748658 |
splice donor variant |
C/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 |
1.000 |
3 |
2013 |
2016 |
rs139235751
|
0.925 |
0.120 |
16 |
89775768 |
missense variant |
C/G;T
|
snv
|
2.4E-03;
2.0E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1555564451
|
1.000 |
0.120 |
16 |
89795917 |
frameshift variant |
GGCTGTG/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1438828232
|
1.000 |
0.120 |
16 |
89784946 |
stop gained |
G/A
|
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 |
1.000 |
2 |
2012 |
2013 |
rs1184639006
|
1.000 |
0.120 |
16 |
89803333 |
stop gained |
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 |
1.000 |
1 |
2012 |
2012 |
rs761725308
|
1.000 |
0.120 |
16 |
89770168 |
stop gained |
G/A
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs772858764
|
1.000 |
0.120 |
16 |
89815966 |
stop gained |
T/A
|
snv
|
5.6E-05
|
1.4E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs776969626
|
1.000 |
0.120 |
16 |
89739175 |
frameshift variant |
TG/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2011 |
2016 |
rs397507552
|
0.925 |
0.120 |
16 |
89792034 |
frameshift variant |
CAAC/-
|
delins
|
7.2E-05
|
5.6E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1439817346
|
1.000 |
0.120 |
16 |
89746857 |
stop gained |
G/A;C
|
snv
|
|
1.4E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs753700179
|
1.000 |
0.120 |
16 |
89740015 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2009 |
2018 |
rs555449842
|
0.925 |
0.120 |
16 |
89775816 |
splice acceptor variant |
C/T
|
snv
|
1.6E-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 |
1.000 |
1 |
2009 |
2009 |
rs17233497
|
0.925 |
0.120 |
16 |
89748744 |
missense variant |
G/A
|
snv
|
5.1E-02
|
5.2E-02
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
3 |
2008 |
2013 |
rs397507553
|
0.925 |
0.120 |
16 |
89740842 |
inframe deletion |
GAA/-
|
delins
|
1.0E-04
|
9.8E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2014 |