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: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.720 1.000 4 1995 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2009 2013
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729 		0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0686377
Disease: CNS metastases
CNS metastases 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519735
rs1057519735 		1.000 0.040 15 66490577 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs1057519820
rs1057519820 		15 66436810 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C 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: rs1057519909
rs1057519909 		0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12050732
rs12050732 		1.000 0.120 15 66458277 intron variant A/C snv 0.20
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397516790
rs397516790 		0.925 0.200 15 66435115 missense variant A/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 2 2008 2010
dbSNP: rs11637556
rs11637556 		1.000 0.120 15 66436613 intron variant A/C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854 		0.882 0.040 15 66404397 intron variant A/C;G snv 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854 		0.882 0.040 15 66404397 intron variant A/C;G snv 0.44
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854 		0.882 0.040 15 66404397 intron variant A/C;G snv 0.44
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs397516790
rs397516790 		0.925 0.200 15 66435115 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.720 1.000 14 2006 2018
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2002 2017
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.700 1.000 7 2006 2009