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: 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: 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: 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: 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: 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: rs41520844
rs41520844 		0.882 0.080 8 31135670 intron variant A/T snv 7.1E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: 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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: 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: 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
dbSNP: rs2725361
rs2725361 		1.000 0.040 8 31139810 intron variant A/G snv 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2737333
rs2737333 		1.000 0.040 8 31135619 intron variant G/T snv 0.38
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2737334
rs2737334 		1.000 0.040 8 31135951 intron variant G/A snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3087425
rs3087425 		0.882 0.160 8 31120294 missense variant C/T snv 2.8E-03 8.7E-04
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3213202
rs3213202 		1.000 0.040 8 31132174 intron variant C/T snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs41520844
rs41520844 		0.882 0.080 8 31135670 intron variant A/T snv 7.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6982140
rs6982140 		1.000 0.040 8 31141912 intron variant T/C snv 3.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7001440
rs7001440 		1.000 0.040 8 31143344 intron variant G/A snv 7.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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