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: rs104894650
rs104894650 		1.000 17 16948752 stop gained G/A;C;T snv 5.2E-05; 5.6E-05; 1.2E-05
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 0
dbSNP: rs121908379
rs121908379 		0.925 0.040 17 16940375 stop gained GG/CC;TT mnv
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 0
dbSNP: rs1555550717
rs1555550717 		1.000 17 16972027 frameshift variant G/- delins
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 0
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: rs104894649
rs104894649 		0.925 0.040 17 16940352 missense variant C/T snv 8.0E-04 7.5E-04
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.800 1.000 1 2005 2005
dbSNP: rs104894649
rs104894649 		0.925 0.040 17 16940352 missense variant C/T snv 8.0E-04 7.5E-04
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121908379
rs121908379 		0.925 0.040 17 16940375 stop gained GG/CC;TT mnv
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: 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: 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: 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: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs200013015
rs200013015 		1.000 0.080 17 16972018 missense variant G/A;T snv 7.2E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs55916807
rs55916807 		0.925 0.080 17 16948968 missense variant C/T snv 2.0E-03 2.6E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2007 2007
dbSNP: rs55916807
rs55916807 		0.925 0.080 17 16948968 missense variant C/T snv 2.0E-03 2.6E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs72553882
rs72553882 		0.925 0.080 17 16940465 stop gained G/C;T snv 4.0E-05
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs72553882
rs72553882 		0.925 0.080 17 16940465 stop gained G/C;T snv 4.0E-05
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 1.000 1 2009 2009
dbSNP: rs751216929
rs751216929 		1.000 0.040 17 16940442 missense variant C/T snv 1.8E-04 2.0E-04
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.010 1.000 1 2009 2009
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: rs4273077
rs4273077 		0.925 0.160 17 16945825 intron variant A/G snv 0.13
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2010 2010
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: rs11654088
rs11654088 		17 16946499 intron variant G/C snv 0.22
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: 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: rs3751991
rs3751991 		17 16931972 intron variant C/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3818716
rs3818716 		17 16948520 intron variant C/T snv 0.35
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012