PRKCE, protein kinase C epsilon, 5581

N. diseases: 112; N. variants: 51
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: rs114948639
rs114948639 		2 46066687 intron variant C/T snv 7.2E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11690961
rs11690961 		2 46136197 intron variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12105417
rs12105417 		2 46134116 intron variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12623399
rs12623399 		2 46122132 intron variant T/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs12712955
rs12712955 		2 45939182 intron variant A/G snv 0.43
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12712955
rs12712955 		2 45939182 intron variant A/G snv 0.43
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12990867
rs12990867 		2 46145272 intron variant G/A snv 0.14 0.16
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12992366
rs12992366 		2 46138781 intron variant G/A snv 5.3E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12992366
rs12992366 		2 46138781 intron variant G/A snv 5.3E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12999972
rs12999972 		2 45947279 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs13008603
rs13008603 		2 46128709 intron variant C/A snv 0.10
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13008603
rs13008603 		2 46128709 intron variant C/A snv 0.10
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs13008603
rs13008603 		2 46128709 intron variant C/A snv 0.10
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs13008603
rs13008603 		2 46128709 intron variant C/A snv 0.10
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2013 2013
dbSNP: rs13406773
rs13406773 		2 46135729 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13406901
rs13406901 		2 46135927 intron variant T/G snv 0.28
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13410378
rs13410378 		2 46136668 intron variant T/C snv 0.37
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17034581
rs17034581 		2 46120057 intron variant A/T snv 0.11
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17034641
rs17034641 		2 46145505 intron variant G/A snv 0.16
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2017 2017
dbSNP: rs17034641
rs17034641 		2 46145505 intron variant G/A snv 0.16
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17034641
rs17034641 		2 46145505 intron variant G/A snv 0.16
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs17737768
rs17737768 		2 46129994 intron variant T/C snv 8.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17737768
rs17737768 		2 46129994 intron variant T/C snv 8.1E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs17799476
rs17799476 		2 46125187 intron variant C/G snv 0.13
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs17799476
rs17799476 		2 46125187 intron variant C/G snv 0.13
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016