PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
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: rs17035378
rs17035378 		0.882 0.200 2 68371823 intron variant T/A;C snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs144214859
rs144214859 		1.000 0.080 2 68397478 downstream gene variant G/A snv 1.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2020 2020
dbSNP: rs17035378
rs17035378 		0.882 0.200 2 68371823 intron variant T/A;C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17035378
rs17035378 		0.882 0.200 2 68371823 intron variant T/A;C snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17035378
rs17035378 		0.882 0.200 2 68371823 intron variant T/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17035378
rs17035378 		0.882 0.200 2 68371823 intron variant T/A;C snv
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1867312
rs1867312 		2 68392849 intron variant C/A snv 0.58
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34338164
rs34338164 		2 68388414 missense variant A/C snv 8.0E-03 7.8E-03
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs34338164
rs34338164 		2 68388414 missense variant A/C snv 8.0E-03 7.8E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs34338164
rs34338164 		2 68388414 missense variant A/C snv 8.0E-03 7.8E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs34338164
rs34338164 		2 68388414 missense variant A/C snv 8.0E-03 7.8E-03
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: rs34515106
rs34515106 		2 68380846 missense variant A/C snv 6.7E-03 1.9E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34515106
rs34515106 		2 68380846 missense variant A/C snv 6.7E-03 1.9E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs553863637
rs553863637 		0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2000 2000
dbSNP: rs553863637
rs553863637 		0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs553863637
rs553863637 		0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2000 2000