SENP2, SUMO specific peptidase 2, 59343

N. diseases: 49; N. variants: 6
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: rs13081203
rs13081203 		3 185604855 intron variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs12374077
rs12374077 		3 185599886 intron variant G/C snv 0.38
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4686683
rs4686683 		3 185589575 intron variant T/G snv 0.49
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4687477
rs4687477 		3 185630563 3 prime UTR variant T/C snv 0.41
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6762208
rs6762208 		0.851 0.200 3 185613377 missense variant C/A;T snv 0.36; 1.2E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7638853
rs7638853 		3 185632918 3 prime UTR variant G/A snv 0.36
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs6762208
rs6762208 		0.851 0.200 3 185613377 missense variant C/A;T snv 0.36; 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs6762208
rs6762208 		0.851 0.200 3 185613377 missense variant C/A;T snv 0.36; 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs6762208
rs6762208 		0.851 0.200 3 185613377 missense variant C/A;T snv 0.36; 1.2E-05
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019