Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786202760
rs786202760
0.925 0.200 17 61776557 stop gained C/A;G;T snv 4.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 3 2005 2010
dbSNP: rs137852986
rs137852986
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 18 2005 2018
dbSNP: rs786203717
rs786203717
0.925 0.240 17 61684051 frameshift variant CTTT/- delins 1.6E-05 2.8E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 7 2008 2018
dbSNP: rs587778134
rs587778134
0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2011 2016
dbSNP: rs587781321
rs587781321
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2014 2016
dbSNP: rs730881649
rs730881649
0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2005 2016
dbSNP: rs756853672
rs756853672
0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 6 2005 2016
dbSNP: rs149364097
rs149364097
0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2005 2016
dbSNP: rs587780833
rs587780833
0.925 0.200 17 61847100 splice donor variant C/T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2005 2016
dbSNP: rs587782047
rs587782047
0.925 0.200 17 61861446 splice donor variant C/A;T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 5 2005 2016
dbSNP: rs1295703239
rs1295703239
0.925 0.200 17 61685952 frameshift variant AGAT/-;AGATAGAT delins 7.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2011
dbSNP: rs1555573327
rs1555573327
0.925 0.200 17 61685949 frameshift variant G/- delins
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2011
dbSNP: rs587780226
rs587780226
0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2016 2017
dbSNP: rs587781655
rs587781655
1.000 0.120 17 61808466 splice donor variant C/T snv 1.6E-05 5.6E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2015
dbSNP: rs730881645
rs730881645
0.882 0.280 17 61683850 frameshift variant A/- del 2.0E-05 5.6E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2010 2015
dbSNP: rs771028677
rs771028677
0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2016
dbSNP: rs775537066
rs775537066
0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2006 2016
dbSNP: rs779741278
rs779741278
0.925 0.240 17 61683805 frameshift variant -/A delins 4.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2010 2016
dbSNP: rs786203700
rs786203700
0.882 0.280 17 61857233 splice acceptor variant T/C snv 4.0E-06 7.0E-06
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2016
dbSNP: rs864622277
rs864622277
0.925 0.240 17 61847221 splice acceptor variant C/G snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2016
dbSNP: rs869312763
rs869312763
0.925 0.200 17 61686167 splice acceptor variant T/C snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2016
dbSNP: rs1057519365
rs1057519365
0.851 0.320 17 61780931 frameshift variant TT/- delins
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2011 2016
dbSNP: rs1064793887
rs1064793887
0.925 0.240 17 61743135 splice acceptor variant C/T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2005 2011
dbSNP: rs1555607022
rs1555607022
0.925 0.200 17 61799099 splice donor variant C/T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2005 2011
dbSNP: rs1555607628
rs1555607628
0.925 0.200 17 61801252 splice donor variant C/T snv
FANCONI ANEMIA, COMPLEMENTATION GROUP J
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2005 2011