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: rs72553885
rs72553885 		17 16940378 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 5.6E-05
CUI: C0242172
Disease: Pelvic Inflammatory Disease
Pelvic Inflammatory Disease 		Female Urogenital Diseases and Pregnancy Complications; Infections 0.010 1.000 1 2019 2019
dbSNP: rs74998556
rs74998556 		0.925 0.080 17 16936468 intron variant A/T snv 0.16
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs74998556
rs74998556 		0.925 0.080 17 16936468 intron variant A/T snv 0.16
CUI: C0030489
Disease: Paraproteinemias
Paraproteinemias 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.100 0.900 10 2005 2018
dbSNP: rs34562254
rs34562254 		1.000 0.160 17 16939677 missense variant G/A snv 0.14 0.12
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34562254
rs34562254 		1.000 0.160 17 16939677 missense variant G/A snv 0.14 0.12
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4985726
rs4985726 		0.925 0.120 17 16960324 intron variant C/G snv 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs146436713
rs146436713 		1.000 0.120 17 16948957 missense variant C/A;T snv 8.0E-06; 1.9E-04
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.800 1.000 13 2005 2016
dbSNP: rs72553875
rs72553875 		1.000 17 16948978 frameshift variant -/T delins 4.0E-06; 4.1E-04 3.0E-04
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 1.000 7 2005 2016
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs34562254
rs34562254 		1.000 0.160 17 16939677 missense variant G/A snv 0.14 0.12
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72553883
rs72553883 		0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.050 0.800 5 2005 2015
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2015
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs4985726
rs4985726 		0.925 0.120 17 16960324 intron variant C/G snv 0.11
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4985726
rs4985726 		0.925 0.120 17 16960324 intron variant C/G snv 0.11
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 2015 2015
dbSNP: rs72553883
rs72553883 		0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4273077
rs4273077 		0.925 0.160 17 16945825 intron variant A/G snv 0.13
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.810 1.000 2 2013 2014
dbSNP: rs4273077
rs4273077 		0.925 0.160 17 16945825 intron variant A/G snv 0.13
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014