LOC284454, uncharacterized LOC284454, 284454

N. diseases: 6; N. variants: 7
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: rs10422126
rs10422126 		19 13837498 non coding transcript exon variant G/A snv 0.37
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs10422126
rs10422126 		19 13837498 non coding transcript exon variant G/A snv 0.37
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1531213
rs1531213 		1.000 0.080 19 13840976 non coding transcript exon variant G/A snv 3.2E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs2594714
rs2594714 		1.000 0.080 19 13843757 upstream gene variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs62122064
rs62122064 		19 13839392 non coding transcript exon variant A/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs8101375
rs8101375 		19 13837583 non coding transcript exon variant T/C;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
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 2014 2014
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
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 2015 2015
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11671784
rs11671784 		0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C4018978
Disease: Unilateral Breast Neoplasms
Unilateral Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C1710547
Disease: Unilateral Breast Carcinoma
Unilateral Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2017 2017
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs895819
rs895819 		0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013