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: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.080 1.000 8 2005 2017
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.070 1.000 7 2007 2017
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2010 2013
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0302142
Disease: Deformity
Deformity 		0.010 1.000 1 2018 2018
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2018 2018
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2004 2004
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 1.000 1 2010 2010
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2016 2016
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2013 2013
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.010 < 0.001 1 2015 2015
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2005 2005