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: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 0.833 6 2008 2017
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.040 0.500 4 2003 2015
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2008 2013
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.020 1.000 2 2006 2011
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.020 1.000 2 2012 2017
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		0.020 1.000 2 2003 2008
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.020 1.000 2 2007 2015
dbSNP: rs1128503
rs1128503 		0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2013
dbSNP: rs3789243
rs3789243 		0.776 0.120 7 87591570 intron variant A/G snv 0.50
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2009 2013
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		0.010 < 0.001 1 2012 2012
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2009 2009
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1698259
Disease: HCV coinfection
HCV coinfection 		0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0741585
Disease: BODY ACHE
BODY ACHE 		0.010 1.000 1 2020 2020
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2009 2009
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus 		0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		0.010 1.000 1 2011 2011
dbSNP: rs1128503
rs1128503 		0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		0.010 1.000 1 2019 2019
dbSNP: rs13233308
rs13233308 		1.000 0.040 7 87615644 intron variant C/T snv 0.36
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs200378616
rs200378616 		0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism 		0.010 1.000 1 2015 2015
dbSNP: rs533117495
rs533117495 		0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs56364292
rs56364292 		7 87558776 intron variant C/T snv 0.10
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs979090956
rs979090956 		0.827 0.200 7 87553822 missense variant G/C snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008