SENP1, SUMO specific peptidase 1, 29843

N. diseases: 79; N. variants: 5
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: rs10875742
rs10875742 		12 48099591 intron variant G/A snv 0.35
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2408955
rs2408955 		12 48105348 5 prime UTR variant G/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12297820
rs12297820 		0.925 0.080 12 48047965 intron variant G/A snv 7.2E-02 9.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12297820
rs12297820 		0.925 0.080 12 48047965 intron variant G/A snv 7.2E-02 9.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61918808
rs61918808 		0.925 0.080 12 48091747 intron variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs61918808
rs61918808 		0.925 0.080 12 48091747 intron variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs7963934
rs7963934 		1.000 0.080 12 48083303 intron variant C/G snv 0.22
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014