AOPEP, aminopeptidase O (putative), 84909

N. diseases: 23; N. variants: 58
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: rs10821415
rs10821415 		1.000 0.080 9 94951177 intron variant C/A snv 0.34
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.810 1.000 3 2012 2018
dbSNP: rs3802457
rs3802457 		1.000 0.120 9 94979054 intron variant G/A snv 8.5E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.810 1.000 2 2012 2015
dbSNP: rs104886458
rs104886458 		0.882 0.120 9 95101723 missense variant A/G snv 1.2E-05 2.1E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 15 1992 2015
dbSNP: rs121917785
rs121917785 		1.000 0.120 9 95107112 missense variant A/C snv
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 1992 2009
dbSNP: rs4385527
rs4385527 		0.827 0.280 9 94886305 intron variant G/A snv 0.31
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.720 1.000 3 2012 2015
dbSNP: rs104886457
rs104886457 		0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1993 2014
dbSNP: rs104886457
rs104886457 		0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-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 7 1993 2017
dbSNP: rs104886457
rs104886457 		0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1993 2017
dbSNP: rs730881710
rs730881710 		0.925 0.120 9 95107211 frameshift variant AG/- delins 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 4 1993 2016
dbSNP: rs1564641485
rs1564641485 		1.000 0.120 9 95107197 frameshift variant AGGTCCTGGGC/- 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 1.000 3 1993 2014
dbSNP: rs371897078
rs371897078 		0.925 0.120 9 95111630 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2013 2018
dbSNP: rs7026071
rs7026071 		1.000 0.080 9 94730238 intron variant T/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2017 2018
dbSNP: rs774209201
rs774209201 		0.925 0.120 9 95126582 splice acceptor variant C/G snv 8.0E-06 1.4E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2008 2012
dbSNP: rs1057516455
rs1057516455 		1.000 0.120 9 95101785 stop gained C/T snv
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1057516488
rs1057516488 		1.000 0.120 9 95107082 stop gained C/T snv
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs10761362
rs10761362 		9 94885032 intron variant A/G snv 0.89
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.700 1.000 1 2010 2010
dbSNP: rs10993370
rs10993370 		9 94854821 intron variant C/G snv 0.35
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10993397
rs10993397 		1.000 0.120 9 94917489 intron variant C/T snv 0.33
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4385527
rs4385527 		0.827 0.280 9 94886305 intron variant G/A snv 0.31
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs563290728
rs563290728 		9 94962441 intron variant C/G snv 8.7E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs730881709
rs730881709 		0.925 0.120 9 95111489 frameshift variant -/A delins 4.0E-06 2.1E-05
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs730881710
rs730881710 		0.925 0.120 9 95107211 frameshift variant AG/- delins 4.0E-06
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs774209201
rs774209201 		0.925 0.120 9 95126582 splice acceptor variant C/G snv 8.0E-06 1.4E-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 2008 2008
dbSNP: rs7864171
rs7864171 		1.000 0.120 9 94960984 intron variant G/A;C snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs867319477
rs867319477 		1.000 0.120 9 95101756 stop gained G/T snv 8.0E-06
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1996 1996