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: rs41520844
rs41520844 		0.882 0.080 8 31135670 intron variant A/T snv 7.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 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: 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: 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: 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: 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: rs11574311
rs11574311 		0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.020 1.000 2 2013 2018
dbSNP: rs4733220
rs4733220 		0.807 0.120 8 31043374 intron variant A/G snv 0.50
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.020 1.000 2 2013 2018
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
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: 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: rs2725383
rs2725383 		0.807 0.120 8 31075099 intron variant C/G snv 0.76
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System 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: 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2000 2000
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: 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: rs2725383
rs2725383 		0.807 0.120 8 31075099 intron variant C/G snv 0.76
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4733220
rs4733220 		0.807 0.120 8 31043374 intron variant A/G snv 0.50
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2006 2016
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: 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: 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: rs3087425
rs3087425 		0.882 0.160 8 31120294 missense variant C/T snv 2.8E-03 8.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800389
rs1800389 		8 31067041 synonymous variant C/T snv 0.71 0.67
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019