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: 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: 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: 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: 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: 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: 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: rs769165409
rs769165409 		1.000 17 16940384 frameshift variant -/T delins 2.0E-05
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		0.700 1.000 2 2009 2013
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: 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: 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: 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
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: rs4273077
rs4273077 		0.925 0.160 17 16945825 intron variant A/G snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4561508
rs4561508 		17 16945436 intron variant C/T snv 0.12
CUI: C0036836
Disease: Serum total protein measurement
Serum total protein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4561508
rs4561508 		17 16945436 intron variant C/T snv 0.12
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4561508
rs4561508 		17 16945436 intron variant C/T snv 0.12
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2013 2013
dbSNP: rs4792800
rs4792800 		17 16941853 intron variant A/G snv 0.12
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4985700
rs4985700 		17 16962761 intron variant C/A snv 0.66
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012