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: 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: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 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: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1301194
Disease: Salivary duct carcinoma
Salivary duct carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV 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: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA 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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 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: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0030354
Disease: Papilloma
Papilloma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs104886003
rs104886003 		0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2020 2020