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: rs774925473
rs774925473 		0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 10 1996 2015
dbSNP: rs774925473
rs774925473 		0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1996 2017
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 0.500 2 2012 2012
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2012 2014
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2012 2012
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 2 2011 2011
dbSNP: rs149934734
rs149934734 		1.000 11 108444879 intron variant C/T snv 1.6E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 2 2018 2019
dbSNP: rs149934734
rs149934734 		1.000 11 108444879 intron variant C/T snv 1.6E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs11212592
rs11212592 		0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11212592
rs11212592 		0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11212592
rs11212592 		0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11212617
rs11212617 		0.827 0.200 11 108412434 intron variant C/A snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs170548
rs170548 		1.000 0.080 11 108364109 intron variant A/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs17503908
rs17503908 		1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17503908
rs17503908 		1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs227041
rs227041 		11 108352074 intron variant C/A snv 0.52
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs227060
rs227060 		0.882 0.160 11 108334154 intron variant C/T snv 0.27
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs227060
rs227060 		0.882 0.160 11 108334154 intron variant C/T snv 0.27
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2011 2011