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: rs121913677
rs121913677 		0.925 0.080 7 116783402 missense variant A/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs1476454
rs1476454 		7 116717314 intron variant A/G snv 0.26
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1858830
rs1858830 		0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs41741
rs41741 		7 116798457 downstream gene variant G/T snv 0.64
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs56391007
rs56391007 		0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.700 1.000 1 1975 1975
dbSNP: rs786202724
rs786202724 		0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs786202724
rs786202724 		0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2007 2007
dbSNP: rs794728016
rs794728016 		1.000 7 116763206 missense variant T/G snv
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs10215153
rs10215153 		1.000 0.040 7 116759077 intron variant G/A snv 0.32
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2014 2014
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
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
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
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 1998 1998
dbSNP: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0879257
Disease: Hereditary Papillary Renal Carcinoma
Hereditary Papillary Renal Carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
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 0.010 1.000 1 2002 2002
dbSNP: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs121913246
rs121913246 		0.827 0.200 7 116783360 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121913247
rs121913247 		0.882 0.200 7 116783359 missense variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121913247
rs121913247 		0.882 0.200 7 116783359 missense variant T/C snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs121913668
rs121913668 		0.882 0.120 7 116778827 missense variant T/C snv
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121913671
rs121913671 		0.882 0.160 7 116783353 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017