Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×
Source: ALL
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: rs137852986
rs137852986 		0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs587778134
rs587778134 		0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs1057519365
rs1057519365 		0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs587781321
rs587781321 		0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs587780226
rs587780226 		0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs730881645
rs730881645 		0.882 0.280 17 61683850 frameshift variant A/- del 2.0E-05 5.6E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs786203700
rs786203700 		0.882 0.280 17 61857233 splice acceptor variant T/C snv 4.0E-06 7.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs587782410
rs587782410 		0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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 2015 2016
dbSNP: rs780020495
rs780020495 		0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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 2015 2018
dbSNP: rs876660203
rs876660203 		0.882 0.280 17 61685835 splice donor variant C/T snv
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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: rs587780228
rs587780228 		0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2016
dbSNP: rs587780236
rs587780236 		0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-06 7.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2016
dbSNP: rs587781292
rs587781292 		0.882 0.280 17 61859868 stop gained C/A;T snv 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2014 2015
dbSNP: rs1555616143
rs1555616143 		0.882 0.280 17 61849155 frameshift variant TTCTT/- delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781985
rs587781985 		0.882 0.280 17 61780342 frameshift variant -/C ins 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs587782574
rs587782574 		0.882 0.280 17 61743015 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs775171520
rs775171520 		0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs775735278
rs775735278 		0.882 0.280 17 61784388 frameshift variant T/-;TT delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057517643
rs1057517643 		0.882 0.280 17 61744578 stop gained A/T snv
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057517648
rs1057517648 		0.882 0.280 17 61859795 splice donor variant C/- delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555603638
rs1555603638 		0.882 0.280 17 61784425 splice acceptor variant C/T snv
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555609191
rs1555609191 		0.882 0.280 17 61808545 frameshift variant A/- del
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs368796923
rs368796923 		0.882 0.280 17 61799200 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0