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: rs165975
rs165975 		16 16040137 intron variant T/C snv 0.30
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs16967179
rs16967179 		16 15997650 intron variant C/T snv 2.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17264736
rs17264736 		16 16022699 intron variant G/T snv 0.45
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs17264736
rs17264736 		16 16022699 intron variant G/T snv 0.45
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs193538
rs193538 		16 16034059 intron variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs246214
rs246214 		16 16021035 intron variant C/A;T snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2012 2012
dbSNP: rs60782127
rs60782127 		16 16048222 missense variant G/T snv 8.9E-03 7.6E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs74475935
rs74475935 		1.000 0.080 16 15961249 intron variant C/G snv 4.5E-03
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs8056298
rs8056298 		16 16142666 3 prime UTR variant T/G snv 0.95
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs924135
rs924135 		16 16029602 intron variant A/C;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs9635480
rs9635480 		1.000 0.080 16 16000744 intron variant A/G snv 0.50
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs35628
rs35628 		1.000 0.080 16 16077249 intron variant A/G snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs3888565
rs3888565 		1.000 0.080 16 16089188 intron variant G/A snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs4148353
rs4148353 		1.000 0.080 16 16077291 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1260186456
rs1260186456 		0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1260186456
rs1260186456 		0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17501331
rs17501331 		0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17501331
rs17501331 		0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2074087
rs2074087 		0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2074087
rs2074087 		0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2074087
rs2074087 		0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs212090
rs212090 		1.000 0.040 16 16142147 3 prime UTR variant T/A snv 0.36
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs212090
rs212090 		1.000 0.040 16 16142147 3 prime UTR variant T/A snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs212090
rs212090 		1.000 0.040 16 16142147 3 prime UTR variant T/A snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs212091
rs212091 		0.827 0.120 16 16142793 3 prime UTR variant T/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009