CALR, calreticulin, 811

N. diseases: 487; N. variants: 9
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: rs1010222
rs1010222 		19 12937794 upstream gene variant A/G snv 0.70
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1010222
rs1010222 		19 12937794 upstream gene variant A/G snv 0.70
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1010222
rs1010222 		19 12937794 upstream gene variant A/G snv 0.70
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs1049481
rs1049481 		19 12943967 missense variant G/T snv 0.62 0.57
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2974751
rs2974751 		19 12942220 intron variant A/C;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1555760738
rs1555760738 		0.925 0.040 19 12943751 splice donor variant CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- delins
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.700 0
dbSNP: rs1555760738
rs1555760738 		0.925 0.040 19 12943751 splice donor variant CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- delins
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1378379005
rs1378379005 		19 12938723 missense variant C/G;T snv 2.1E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs147368353
rs147368353 		19 12938729 missense variant C/G;T snv 6.3E-05; 5.8E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs149740908
rs149740908 		0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs149740908
rs149740908 		0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs756312947
rs756312947 		1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs756312947
rs756312947 		1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs777628969
rs777628969 		19 12940603 missense variant A/C snv 8.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010