FANCD2, FA complementation group D2, 2177

N. diseases: 272; N. variants: 23
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: rs121917786
rs121917786 		1.000 0.120 3 10090315 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2001 2001
dbSNP: rs121917787
rs121917787 		0.925 0.120 3 10043065 missense variant C/T snv 8.0E-06; 4.0E-06
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2001 2001
dbSNP: rs121917787
rs121917787 		0.925 0.120 3 10043065 missense variant C/T snv 8.0E-06; 4.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2001 2007
dbSNP: rs943009372
rs943009372 		1.000 0.120 3 10036340 splice donor variant G/A snv 1.2E-05 7.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2007 2013
dbSNP: rs35782247
rs35782247 		3 10048005 missense variant T/G snv 7.0E-03 2.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35782247
rs35782247 		3 10048005 missense variant T/G snv 7.0E-03 2.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs76041173
rs76041173 		3 10037011 intron variant G/A;T snv 0.21
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs764507146
rs764507146 		1.000 0.120 3 10034797 missense variant A/G snv 1.4E-05
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs766567785
rs766567785 		1.000 0.120 3 10067267 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121917788
rs121917788 		1.000 0.120 3 10043119 stop gained C/T snv
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1289665675
rs1289665675 		1.000 0.120 3 10067310 stop gained C/G snv 4.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553607671
rs1553607671 		1.000 0.120 3 10039339 frameshift variant -/A delins
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553608812
rs1553608812 		1.000 0.120 3 10046646 frameshift variant A/- del
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1559399574
rs1559399574 		1.000 0.120 3 10081217 frameshift variant A/- delins
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869312805
rs869312805 		1.000 0.120 3 10064801 inframe deletion CCT/- delins
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs765576835
rs765576835 		0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2007 2012
dbSNP: rs765576835
rs765576835 		0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2007 2012
dbSNP: rs1221526082
rs1221526082 		3 10032957 frameshift variant TCAG/- delins 8.0E-06
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs2272125
rs2272125 		1.000 0.080 3 10096385 synonymous variant T/G snv 0.18 0.25
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs374019283
rs374019283 		0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283 		0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283 		0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283 		0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283 		0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs566769898
rs566769898 		1.000 0.080 3 10034777 missense variant G/A snv 1.2E-05 5.6E-05
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008