TMED7-TICAM2, TMED7-TICAM2 readthrough, 100302736

N. diseases: 329; N. variants: 3
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: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1250394819
rs1250394819 		0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1483790387
rs1483790387 		0.925 0.120 5 115625762 missense variant C/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1483790387
rs1483790387 		0.925 0.120 5 115625762 missense variant C/A snv
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs776977530
rs776977530 		0.925 0.160 5 115625723 synonymous variant G/A snv 4.6E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs776977530
rs776977530 		0.925 0.160 5 115625723 synonymous variant G/A snv 4.6E-06
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012