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: 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: 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: 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: 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
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: rs1554519449
rs1554519449 		1.000 0.080 8 31068326 splice donor variant GGTA/- delins
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
dbSNP: rs1563341296
rs1563341296 		1.000 0.080 8 31085164 splice acceptor variant A/G snv
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
dbSNP: rs1563376793
rs1563376793 		1.000 0.080 8 31141776 splice donor variant G/C snv
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
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: rs267607008
rs267607008 		1.000 0.080 8 31064962 missense variant A/G snv
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
dbSNP: rs2725362
rs2725362 		1.000 0.080 8 31141764 missense variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs387906337
rs387906337 		1.000 0.080 8 31064934 missense variant A/T snv
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
dbSNP: rs763089663
rs763089663 		1.000 0.080 8 31111747 stop gained C/T snv 8.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs772319506
rs772319506 		1.000 0.080 8 31091900 splice donor variant T/G 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
dbSNP: rs777096501
rs777096501 		1.000 0.080 8 31088966 splice donor variant G/A;T snv 4.1E-06; 4.1E-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
dbSNP: rs121908447
rs121908447 		1.000 0.080 8 31147397 stop gained C/T snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1284409960
rs1284409960 		1.000 0.080 8 31147072 frameshift variant -/A delins 4.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1339616347
rs1339616347 		0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1339616347
rs1339616347 		0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 0
dbSNP: rs1339616347
rs1339616347 		0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		Nervous System Diseases 0.700 0
dbSNP: rs1339616347
rs1339616347 		0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0