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 |
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 |
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 |
rs878853666
|
0.882 |
0.200 |
16 |
89803299 |
missense variant |
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 |
2007 |
2007 |
rs878853665
|
1.000 |
0.120 |
16 |
89740024 |
missense variant |
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 |
1.000 |
11 |
1997 |
2009 |
rs1429943036
|
1.000 |
0.120 |
16 |
89749805 |
missense 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 |
9 |
1997 |
2008 |
rs1555533300
|
1.000 |
0.120 |
16 |
89739220 |
missense 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 |
1.000 |
9 |
1997 |
2008 |
rs1555533313
|
1.000 |
0.120 |
16 |
89739225 |
missense 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 |
9 |
1997 |
2008 |
rs1555534579
|
1.000 |
0.120 |
16 |
89740848 |
missense variant |
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 |
1.000 |
9 |
1997 |
2008 |
rs374030577
|
1.000 |
0.120 |
16 |
89767215 |
missense variant |
A/C;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 |
9 |
1997 |
2008 |
rs76275444
|
1.000 |
0.120 |
16 |
89816592 |
missense variant |
G/A;C
|
snv
|
5.0E-03
|
|
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 |
9 |
1997 |
2008 |
rs755546887
|
0.925 |
0.120 |
16 |
89761950 |
missense variant |
G/A;T
|
snv
|
2.4E-05;
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 |
7 |
2005 |
2016 |
rs759877008
|
0.925 |
0.120 |
16 |
89805275 |
splice region variant |
C/A;T
|
snv
|
1.6E-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 |
7 |
1999 |
2018 |
rs755922289
|
0.925 |
0.120 |
16 |
89761949 |
missense variant |
C/A;T
|
snv
|
5.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2000 |
2015 |
rs761341952
|
0.925 |
0.120 |
16 |
89816551 |
stop gained |
C/T
|
snv
|
1.2E-04
|
4.2E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1997 |
2014 |
rs745882980
|
0.925 |
0.120 |
16 |
89738944 |
missense variant |
G/A
|
snv
|
1.2E-05
|
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 |
5 |
2005 |
2017 |
rs772359099
|
0.925 |
0.120 |
16 |
89795922 |
frameshift variant |
GAGT/-
|
delins
|
3.6E-05
|
3.5E-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 |
5 |
1997 |
2014 |
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 |
rs1173704265
|
1.000 |
0.120 |
16 |
89767208 |
missense variant |
A/G
|
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 |
1.000 |
4 |
1997 |
2012 |
rs1283284704
|
1.000 |
0.120 |
16 |
89761970 |
stop gained |
-/TCAGGTTGAATTTCCAGCT
|
delins
|
4.0E-06
|
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 |
4 |
1997 |
2015 |
rs1302083447
|
0.925 |
0.120 |
16 |
89764930 |
missense variant |
T/G
|
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 |
1.000 |
4 |
2005 |
2018 |
rs1490352414
|
1.000 |
0.120 |
16 |
89770179 |
missense variant |
A/G
|
snv
|
9.5E-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 |
4 |
2005 |
2012 |
rs182657062
|
1.000 |
0.120 |
16 |
89739517 |
missense variant |
G/A
|
snv
|
1.3E-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 |
4 |
1999 |
2013 |
rs752160950
|
0.925 |
0.120 |
16 |
89767185 |
stop gained |
G/A;C
|
snv
|
1.2E-05;
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 |
4 |
2005 |
2015 |
rs753980264
|
1.000 |
0.120 |
16 |
89778948 |
stop gained |
G/A;C
|
snv
|
8.0E-06
|
8.4E-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 |
4 |
1999 |
2015 |