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: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.020 1.000 2 2013 2016
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C2242595
Disease: Mucosal atrophy
Mucosal atrophy 		0.010 1.000 1 2015 2015
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		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: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2016 2016
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: rs72690918
rs72690918 		8 142672278 intron variant C/G;T snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs72690918
rs72690918 		8 142672278 intron variant C/G;T snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 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: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0017152
Disease: Gastritis
Gastritis 		Digestive System Diseases 0.050 1.000 5 2014 2019
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		Digestive System Diseases 0.720 1.000 3 2013 2019
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0038358
Disease: Gastric ulcer
Gastric ulcer 		Digestive System Diseases 0.020 1.000 2 2015 2019
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0017152
Disease: Gastritis
Gastritis 		Digestive System Diseases 0.020 1.000 2 2014 2019
dbSNP: rs2920283
rs2920283 		0.925 0.040 8 142675619 intron variant T/C snv 0.44
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		Digestive System Diseases 0.700 1.000 1 2019 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
dbSNP: rs2976391
rs2976391 		0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04
CUI: C0017152
Disease: Gastritis
Gastritis 		Digestive System 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: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9297976
rs9297976 		0.790 0.160 8 142670817 intron variant T/C;G snv
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9297976
rs9297976 		0.790 0.160 8 142670817 intron variant T/C;G snv
CUI: C0017152
Disease: Gastritis
Gastritis 		Digestive System 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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0.971 34 2009 2019
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.100 0.968 31 2009 2019
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.909 11 2009 2019
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.100 0.909 11 2009 2019
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2015 2015