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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0.971 34 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: 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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
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: 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: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
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: 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: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 0.667 3 2013 2014
dbSNP: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
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: rs2294008
rs2294008 		0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 12 2009 2019
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: rs2976392
rs2976392 		0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45
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: 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: 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