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: rs121913282
rs121913282 		0.882 0.040 3 179221072 missense variant A/C snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 2006 2018
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2006 2018
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 12 2004 2016
dbSNP: rs397517201
rs397517201 		0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 11 2004 2016
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 10 2004 2016
dbSNP: rs397517201
rs397517201 		0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 9 2004 2016
dbSNP: rs397517201
rs397517201 		0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 4 2006 2010
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2005 2012
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 2 2005 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T 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: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927 		0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016