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: 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: 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
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: rs1057520030
rs1057520030 		7 116777427 missense variant A/G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs11762213
rs11762213 		0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2013 2016
dbSNP: rs11762213
rs11762213 		0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 7 1997 2015
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: 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: rs121913243
rs121913243 		0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913244
rs121913244 		0.925 0.120 7 116777409 missense variant C/T snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs121913244
rs121913244 		0.925 0.120 7 116777409 missense variant C/T snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2008 2014
dbSNP: rs121913245
rs121913245 		0.925 0.120 7 116783420 missense variant T/C snv
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1997 1999
dbSNP: rs121913245
rs121913245 		0.925 0.120 7 116783420 missense variant T/C snv
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2013 2014