rs574034197
|
0.925 |
0.120 |
16 |
89746848 |
missense variant |
T/C;G
|
snv
|
8.7E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
17 |
1997 |
2015 |
rs753063086
|
0.925 |
0.120 |
16 |
89749806 |
missense variant |
G/A;T
|
snv
|
2.0E-05;
1.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
17 |
1997 |
2017 |
rs148473140
|
0.925 |
0.120 |
16 |
89791459 |
missense variant |
G/A
|
snv
|
8.0E-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
|
0.800 |
1.000 |
16 |
1997 |
2016 |
rs149277003
|
0.925 |
0.120 |
16 |
89746890 |
missense variant |
T/C
|
snv
|
2.5E-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
|
0.800 |
1.000 |
14 |
1997 |
2012 |
rs780825099
|
0.925 |
0.120 |
16 |
89765062 |
missense variant |
T/G
|
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
|
0.800 |
1.000 |
13 |
1997 |
2018 |
rs12921383
|
|
|
16 |
89793345 |
intron variant |
T/C
|
snv
|
|
7.8E-02
|
Homocysteine measurement
|
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs12931267
|
1.000 |
0.040 |
16 |
89752324 |
intron variant |
C/G
|
snv
|
|
4.7E-02
|
Hair Color
|
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs9926296
|
1.000 |
0.040 |
16 |
89751681 |
intron variant |
A/G
|
snv
|
|
0.54
|
Vitiligo
|
Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
1 |
2012 |
2012 |
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 |
rs1057516430
|
0.925 |
0.120 |
16 |
89811060 |
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
|
0.710 |
1.000 |
1 |
2005 |
2005 |
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 |
rs1555536446
|
1.000 |
0.120 |
16 |
89745063 |
inframe deletion |
CAC/-
|
delins
|
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
7 |
1997 |
2015 |
rs574034197
|
0.925 |
0.120 |
16 |
89746848 |
missense variant |
T/C;G
|
snv
|
8.7E-05
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
7 |
1991 |
2012 |
rs745882980
|
0.925 |
0.120 |
16 |
89738944 |
missense variant |
G/A
|
snv
|
1.2E-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 |
7 |
2005 |
2018 |
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 |
rs397507552
|
0.925 |
0.120 |
16 |
89792034 |
frameshift variant |
CAAC/-
|
delins
|
7.2E-05
|
5.6E-05
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2014 |
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 |
rs755922289
|
0.925 |
0.120 |
16 |
89761949 |
missense variant |
C/A;T
|
snv
|
5.2E-05
|
|
Fanconi Anemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2002 |
2016 |