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: 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: 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: 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: 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: 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: rs776785728
rs776785728 		1.000 0.080 8 31065058 frameshift variant AA/- delins 6.4E-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 1997 2008
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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
dbSNP: rs1383589957
rs1383589957 		1.000 0.080 8 31111628 frameshift variant AC/- delins 4.0E-06 2.8E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1425295
rs1425295 		1.000 0.040 8 31108447 intron variant C/T snv 0.82
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs143916053
rs143916053 		1.000 0.080 8 31111720 stop gained C/T snv 1.6E-05 7.0E-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: 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: rs16877794
rs16877794 		8 31158766 intron variant A/G snv 0.62
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
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
dbSNP: rs1800392
rs1800392 		1.000 0.040 8 31116441 synonymous variant G/T snv 0.45 0.44
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2553278
rs2553278 		1.000 0.040 8 31135859 intron variant C/T snv 0.47
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs2725352
rs2725352 		1.000 0.040 8 31120201 non coding transcript exon variant T/C snv 0.46 0.45
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017