JRK, Jrk helix-turn-helix protein, 8629

N. diseases: 73; N. variants: 10
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: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.100 1.000 11 2009 2019
dbSNP: rs2976391
rs2976391 		0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2978974
rs2978974 		0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9297976
rs9297976 		0.790 0.160 8 142670817 intron variant T/C;G snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2978981
rs2978981 		8 142677719 intron variant C/A;G;T snv
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2978974
rs2978974 		0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.040 1.000 4 2010 2015
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 13 2009 2019
dbSNP: rs2976391
rs2976391 		0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2978974
rs2978974 		0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9297976
rs9297976 		0.790 0.160 8 142670817 intron variant T/C;G snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.860 1.000 6 2012 2019
dbSNP: rs2920283
rs2920283 		0.925 0.040 8 142675619 intron variant T/C snv 0.44
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2920297
rs2920297 		1.000 0.040 8 142681665 3 prime UTR variant A/G snv 0.44
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2976391
rs2976391 		0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.010 1.000 1 2019 2019