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: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs33917957
rs33917957
0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2005 2009
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.710 1.000 2 2003 2007
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx)
0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
Squamous cell carcinoma of the head and neck
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1057519824
rs1057519824
0.807 0.120 7 116783374 missense variant T/G snv
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121913243
rs121913243
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
Type 1 Papillary Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
Type 1 Papillary Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
dbSNP: rs34589476
rs34589476
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.730 1.000 4 2003 2014
dbSNP: rs121913243
rs121913243
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2013 2014
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.710 1.000 2 2007 2017
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2002 2014
dbSNP: rs121913246
rs121913246
0.827 0.200 7 116783360 missense variant A/G snv
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2000 2002