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: 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: 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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 0.900 10 2009 2019
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.760 1.000 7 2006 2019
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2011 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2013 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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2013 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.020 1.000 2 2008 2018
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: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2018 2020
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		Neoplasms 0.700 1.000 2 2013 2014
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2018 2020
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 2 2005 2005
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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2018 2020
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
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: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015