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: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C1306068
Disease: After-cataract
After-cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1304645785
rs1304645785 		1.000 0.080 8 31090532 missense variant G/A snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C1261473
Disease: Sarcoma
Sarcoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
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 2006 2006
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2013 2013