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: rs1198210848
rs1198210848 		1.000 0.080 8 31058535 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: rs1244318419
rs1244318419 		1.000 0.080 8 31076199 frameshift variant AACA/- delins 1.2E-05 1.4E-05
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: rs1303126572
rs1303126572 		1.000 0.080 8 31157509 stop gained C/T snv 7.0E-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
dbSNP: rs1339616347
rs1339616347 		0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 0
dbSNP: rs1339616347
rs1339616347 		0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1361270203
rs1361270203 		1.000 0.080 8 31067049 frameshift variant -/CT delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554519254
rs1554519254 		1.000 0.080 8 31067035 frameshift variant -/AA delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554526707
rs1554526707 		1.000 0.080 8 31111632 frameshift variant -/A delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554527775
rs1554527775 		1.000 0.080 8 31116412 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: rs1554528411
rs1554528411 		1.000 0.080 8 31120398 stop gained G/A snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563331288
rs1563331288 		1.000 0.080 8 31067082 stop gained T/G snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563338837
rs1563338837 		1.000 0.080 8 31081138 stop gained G/T snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563338855
rs1563338855 		1.000 0.080 8 31081141 frameshift variant GA/C delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563357741
rs1563357741 		1.000 0.080 8 31111696 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: rs1563376347
rs1563376347 		1.000 0.080 8 31141456 stop gained T/A snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563376526
rs1563376526 		1.000 0.080 8 31141564 stop gained T/G snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563382597
rs1563382597 		1.000 0.080 8 31150450 frameshift variant G/- del
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1563385391
rs1563385391 		1.000 0.080 8 31154644 frameshift variant A/- delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs17847577
rs17847577 		0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0