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: rs9297976
rs9297976 		0.790 0.160 8 142670817 intron variant T/C;G snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs9297976
rs9297976 		0.790 0.160 8 142670817 intron variant T/C;G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs2976391
rs2976391 		0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: 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: 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: 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: rs2976391
rs2976391 		0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 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: C0017152
Disease: Gastritis
Gastritis 		Digestive System 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: rs3736001
rs3736001 		0.925 0.080 8 142681389 stop gained G/A;T snv 2.3E-02; 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3736001
rs3736001 		0.925 0.080 8 142681389 stop gained G/A;T snv 2.3E-02; 1.4E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
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: 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: 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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: 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: 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: rs2978974
rs2978974 		0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2978974
rs2978974 		0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: rs2978974
rs2978974 		0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2016 2016