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: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 3 2014 2019
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.720 1.000 3 2016 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.720 1.000 3 2008 2019
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 13 2004 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 3 2005 2016
dbSNP: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 3 2005 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2008 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.710 1.000 2 2015 2016
dbSNP: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2008 2016
dbSNP: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.710 1.000 2 2016 2017
dbSNP: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 2 2013 2017
dbSNP: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 2 2004 2016
dbSNP: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		Skin and Connective Tissue Diseases 0.710 1.000 1 2007 2007
dbSNP: rs121913274
rs121913274 		0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		Neoplasms 0.710 1.000 1 2007 2007
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: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 14 2004 2016
dbSNP: rs867262025
rs867262025 		0.790 0.360 3 179221146 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2006 2018
dbSNP: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 13 2004 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 12 2004 2016
dbSNP: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 12 2004 2014
dbSNP: rs121913273
rs121913273 		0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 12 2004 2016
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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 11 2004 2012
dbSNP: rs121913279
rs121913279 		0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 11 2004 2012