WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
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: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1445851476
rs1445851476 		1.000 0.080 8 31085179 missense variant A/G snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801195
rs1801195 		0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs188554751
rs188554751 		0.851 0.200 8 31120403 missense variant C/T snv 4.0E-06
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs188554751
rs188554751 		0.851 0.200 8 31120403 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 2009 2009
dbSNP: rs188554751
rs188554751 		0.851 0.200 8 31120403 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 2009 2009
dbSNP: rs188554751
rs188554751 		0.851 0.200 8 31120403 missense variant C/T snv 4.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2230009
rs2230009 		0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2230009
rs2230009 		0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2230009
rs2230009 		0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2230009
rs2230009 		0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C1306068
Disease: After-cataract
After-cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338 		0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		Eye Diseases 0.010 1.000 1 2013 2013