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: rs1170251457
rs1170251457 		9 97675556 stop gained C/T snv 7.0E-06
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3176683
rs3176683 		9 97686335 intron variant A/G snv 3.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2012 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2012 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2011 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2011 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2011 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2011 2015
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1800975
rs1800975 		0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0003635
Disease: Apraxias
Apraxias 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0012569
Disease: Diplopia
Diplopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0