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: rs2274892
rs2274892 		17 16948713 intron variant T/C;G snv 8.0E-06; 0.39
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 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: C0337443
Disease: Sodium measurement
Sodium measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35062843
rs35062843 		1.000 0.040 17 16948892 synonymous variant A/C snv 4.2E-02 3.6E-02
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs72553883
rs72553883 		0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 1.000 9 2005 2013
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: rs72553883
rs72553883 		0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		Immune System Diseases 0.030 1.000 3 2005 2010
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: rs72553883
rs72553883 		0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
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: 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: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		Immune System Diseases 0.040 1.000 4 2005 2011
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: 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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2005 2005
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: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		Immune System Diseases 0.010 1.000 1 2005 2005
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: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte 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: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015