Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs151264360
rs151264360
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
0.010 < 0.001 1 2018 2018
dbSNP: rs151264360
rs151264360
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 1.000 1 2018 2018
dbSNP: rs151264360
rs151264360
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.010 < 0.001 1 2018 2018
dbSNP: rs2790
rs2790
0.925 0.160 18 673086 3 prime UTR variant A/G;T snv 0.22
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 1.000 1 2018 2018
dbSNP: rs2790
rs2790
0.925 0.160 18 673086 3 prime UTR variant A/G;T snv 0.22
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs699517
rs699517
18 673016 3 prime UTR variant C/T snv 0.38 0.40
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 1.000 1 2012 2012
dbSNP: rs1059394
rs1059394
0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C0017638
Disease: Glioma
Glioma
0.020 1.000 2 2019 2019
dbSNP: rs1059394
rs1059394
0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.030 1.000 3 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 1.000 2 2014 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
Childhood Acute Lymphoblastic Leukemia
0.020 1.000 2 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.020 1.000 2 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 1.000 2 2013 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2013 2013
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2014 2014
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2014 2014
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 1.000 1 2010 2010