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: 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: 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: 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: 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
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
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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: rs4985726
rs4985726 		0.925 0.120 17 16960324 intron variant C/G snv 0.11
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2012 2012
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: rs7226097
rs7226097 		17 16965247 intron variant C/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: 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: 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: 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