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: rs10952780
rs10952780 		7 148857243 intron variant A/C snv 0.46
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs10952780
rs10952780 		7 148857243 intron variant A/C snv 0.46
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.720 1.000 4 2012 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016