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: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.100 0.750 32 2005 2018
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.100 0.850 20 2003 2018
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.950 20 2007 2019
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.944 18 2007 2017
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
Nervous System Diseases 0.100 0.750 16 2007 2017
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.100 0.929 14 2003 2019
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.100 0.786 14 2005 2017
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.100 0.909 11 2005 2013
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023530
Disease: Leukopenia
Leukopenia
Hemic and Lymphatic Diseases 0.100 0.909 11 2009 2017
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.100 0.900 10 2005 2013
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.100 0.800 10 2003 2015
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.100 0.600 10 2003 2017
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.080 0.875 8 2009 2017
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.080 0.875 8 2011 2017
dbSNP: rs2032582
rs2032582
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.080 0.875 8 2005 2017
dbSNP: rs2032582
rs2032582
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.080 0.875 8 2007 2018
dbSNP: rs2032582
rs2032582
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.080 0.875 8 2005 2018
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.070 0.714 7 2002 2019
dbSNP: rs2032582
rs2032582
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.070 1.000 7 2008 2013
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2004 2014
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.060 0.500 6 2004 2016
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.060 0.833 6 2009 2019
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.060 0.667 6 2003 2019
dbSNP: rs1045642
rs1045642
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.050 0.800 5 2006 2010