PTK2, protein tyrosine kinase 2, 5747

N. diseases: 205; N. variants: 21
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: rs10087782
rs10087782 		8 140848521 intron variant T/C snv 0.43
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs10106406
rs10106406 		8 140996099 intron variant C/A;G snv 0.45
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs11780023
rs11780023 		8 140982679 intron variant T/C snv 0.35
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs13256088
rs13256088 		8 140844857 intron variant T/C snv 0.41
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4355822
rs4355822 		1.000 0.080 8 140736225 intron variant G/A snv 0.63
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6578134
rs6578134 		1.000 0.040 8 140768335 intron variant C/T snv 4.2E-02
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6993266
rs6993266 		1.000 0.080 8 140752560 intron variant G/A snv 0.65
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6994744
rs6994744 		1.000 0.080 8 140730769 intron variant A/C;G snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs72683785
rs72683785 		8 140866103 intron variant C/T snv 4.4E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs72683785
rs72683785 		8 140866103 intron variant C/T snv 4.4E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs72683786
rs72683786 		8 140866188 intron variant C/G snv 6.9E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs1194624468
rs1194624468 		1.000 0.040 8 140700895 missense variant A/T snv 1.6E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2005 2005
dbSNP: rs1194624468
rs1194624468 		1.000 0.040 8 140700895 missense variant A/T snv 1.6E-05
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs1194653703
rs1194653703 		0.925 0.040 8 140659663 missense variant T/C snv 7.0E-06
CUI: C1704231
Disease: Metastatic Malignant Neoplasm to the Leptomeninges
Metastatic Malignant Neoplasm to the Leptomeninges 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1194653703
rs1194653703 		0.925 0.040 8 140659663 missense variant T/C snv 7.0E-06
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer 		0.010 1.000 1 2009 2009
dbSNP: rs1241097162
rs1241097162 		8 140664935 frameshift variant T/- del
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1363478606
rs1363478606 		1.000 0.040 8 140890686 missense variant T/C snv 7.0E-06
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1378002074
rs1378002074 		1.000 0.040 8 140664985 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs139442064
rs139442064 		8 140664946 missense variant G/C snv 1.2E-05 6.3E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs149065728
rs149065728 		8 140668348 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs149065728
rs149065728 		8 140668348 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs756906833
rs756906833 		1.000 0.040 8 140890680 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs762515280
rs762515280 		0.925 0.040 8 140659497 missense variant A/C;G snv 1.2E-05; 4.0E-06
CUI: C1704231
Disease: Metastatic Malignant Neoplasm to the Leptomeninges
Metastatic Malignant Neoplasm to the Leptomeninges 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs762515280
rs762515280 		0.925 0.040 8 140659497 missense variant A/C;G snv 1.2E-05; 4.0E-06
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer 		0.010 1.000 1 2009 2009
dbSNP: rs771308693
rs771308693 		8 140752306 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016