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: rs17847577
rs17847577 		0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1996 2015
dbSNP: rs113993961
rs113993961 		1.000 0.080 8 31141680 splice acceptor variant G/C snv 4.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1996 2006
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2006 2016
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: rs2230009
rs2230009 		0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 0.667 3 2013 2016
dbSNP: rs10954779
rs10954779 		8 31162081 intron variant C/T snv 0.55
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
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: rs121908446
rs121908446 		1.000 0.080 8 31157461 stop gained C/T snv 2.0E-05 2.1E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1996 1997
dbSNP: rs121908448
rs121908448 		1.000 0.080 8 31090843 missense variant A/T snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 2 2000 2007
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2010 2015
dbSNP: rs1346044
rs1346044 		0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2006 2014
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: rs747319628
rs747319628 		1.000 0.080 8 31132498 stop gained C/T snv 1.6E-05 2.8E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 2 2006 2012
dbSNP: rs11574294
rs11574294 		1.000 0.040 8 31112462 intron variant C/T snv 3.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11574304
rs11574304 		1.000 0.040 8 31116295 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs11574341
rs11574341 		1.000 0.040 8 31141162 intron variant C/T snv 2.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11574358
rs11574358 		8 31147066 missense variant T/G snv
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2015 2015
dbSNP: rs1281075870
rs1281075870 		1.000 0.080 8 31142702 splice donor variant G/A;T snv 4.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006