EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 153; N. variants: 25
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: rs7579899
rs7579899
1.000 0.107 2 46310465 intron variant A/G snp 0.50
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.820 1.000 3 2011 2017
dbSNP: rs11894252
rs11894252
1.000 0.107 2 46306237 intron variant T/A,C,G snp 0.51; 9.6E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.810 1.000 3 2011 2017
dbSNP: rs137853036
rs137853036
0.923 0.036 2 46380281 missense variant G/A,T snp
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
Hemic and Lymphatic Diseases 0.800 3 2008 2009
dbSNP: rs137853037
rs137853037
1.000 0.036 2 46380275 missense variant A/G snp
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
Hemic and Lymphatic Diseases 0.800 2 2008 2009
dbSNP: rs10211665
rs10211665
1.000 0.107 2 46298957 intron variant T/C snp 0.56
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs11125068
rs11125068
1.000 0.107 2 46300677 intron variant A/G snp 0.60
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs11684885
rs11684885
1.000 0.107 2 46306413 intron variant T/C,G snp 0.51
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs11689011
rs11689011
1.000 0.107 2 46314037 intron variant T/A,C,G snp 0.49
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs17034950
rs17034950
1.000 0.107 2 46311655 intron variant G/A snp 0.27
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs1867784
rs1867784
1.000 0.107 2 46307081 intron variant T/C snp 0.40
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs1867785
rs1867785
1.000 0.107 2 46307199 intron variant A/G snp 0.50
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs1867787
rs1867787
1.000 0.107 2 46298252 intron variant G/C,T snp 0.60
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs2034327
rs2034327
1.000 0.107 2 46321901 intron variant G/C snp 0.56
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs2044456
rs2044456
1.000 0.107 2 46319177 intron variant A/G snp 0.28
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs2121266
rs2121266
1.000 0.107 2 46308785 intron variant C/A snp 0.59
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs2346417
rs2346417
1.000 0.107 2 46301822 intron variant T/A snp 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs4952818
rs4952818
1.000 0.107 2 46309917 intron variant C/T snp 0.38
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs4953340
rs4953340
1.000 0.107 2 46320925 intron variant C/A,G snp 0.60
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs4953345
rs4953345
1.000 0.107 2 46325462 intron variant T/A,C snp 0.60
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2016 2016
dbSNP: rs9973653
rs9973653
1.000 0.107 2 46320970 intron variant G/T snp 0.42
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.700 1 2011 2011
dbSNP: rs12617313
rs12617313
1.000 0.107 2 46332637 intron variant A/G,T snp 0.55
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs13419896
rs13419896
1.000 0.071 2 46329206 intron variant G/A snp 0.10
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137853036
rs137853036
0.923 0.036 2 46380281 missense variant G/A,T snp
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17039192
rs17039192
0.923 0.036 2 46297441 5 prime UTR variant C/T snp 2.7E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
Musculoskeletal Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs17039192
rs17039192
0.923 0.036 2 46297441 5 prime UTR variant C/T snp 2.7E-02
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
Musculoskeletal Diseases 0.010 1.000 1 2012 2012