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: 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: 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: rs574552037
rs574552037 		1.000 0.120 17 61716043 stop gained G/A;C snv 3.3E-04; 2.4E-05; 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 3 2005 2015
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: rs786202760
rs786202760 		0.925 0.200 17 61776557 stop gained C/A;G;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 0.800 1.000 3 2005 2010
dbSNP: rs1060501774
rs1060501774 		0.925 0.200 17 61683718 stop gained C/A 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 2 2010 2011
dbSNP: rs1420431000
rs1420431000 		0.925 0.200 17 61683816 stop gained A/C snv 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 2010 2011
dbSNP: rs1555572698
rs1555572698 		0.925 0.200 17 61683736 stop gained C/A 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 2 2010 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: 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: rs730881633
rs730881633 		1.000 0.120 17 61801327 stop gained G/A;C snv 8.0E-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 2017
dbSNP: rs1257401983
rs1257401983 		1.000 0.120 17 61744445 stop gained G/C 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 1 2017 2017
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: rs747604569
rs747604569 		0.925 0.280 17 61849152 stop gained G/A;T snv 8.0E-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 2015 2015
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: rs876659533
rs876659533 		0.925 0.240 17 61776445 stop gained G/A snv 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 1 2018 2018
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: rs1060501739
rs1060501739 		0.925 0.200 17 61784403 stop gained G/A 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: rs1060501740
rs1060501740 		0.925 0.200 17 61857167 stop gained G/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 0
dbSNP: rs1060501765
rs1060501765 		0.925 0.200 17 61847214 stop gained T/A;C 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: rs1060501766
rs1060501766 		0.925 0.200 17 61686136 stop gained G/A;C 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 0
dbSNP: rs1304655615
rs1304655615 		0.925 0.200 17 61799278 stop gained G/A 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 0
dbSNP: rs1310861578
rs1310861578 		1.000 0.120 17 61744463 stop gained -/TAC delins 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 0