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: rs281865157
rs281865157 		1.000 0.080 8 31108591 intron variant A/C;G snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281865158
rs281865158 		1.000 0.080 8 31111704 frameshift variant -/T delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281865159
rs281865159 		1.000 0.080 8 31147362 splice acceptor variant A/C snv
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281865160
rs281865160 		1.000 0.080 8 31150355 frameshift variant A/- delins 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: rs369158322
rs369158322 		1.000 0.080 8 31150454 missense variant A/C;T snv 4.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs370324188
rs370324188 		1.000 0.080 8 31068276 stop gained C/T snv 8.2E-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: rs371538747
rs371538747 		1.000 0.080 8 31064406 stop gained T/A;C;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 0
dbSNP: rs587776621
rs587776621 		1.000 0.080 8 31157462 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: rs606231162
rs606231162 		1.000 0.080 8 31154622 splice region variant AGAC/- delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs747587698
rs747587698 		1.000 0.080 8 31064304 frameshift variant -/G delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs748860208
rs748860208 		1.000 0.080 8 31141490 frameshift variant AACA/- delins 5.6E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs752830087
rs752830087 		1.000 0.080 8 31067052 frameshift variant G/- delins 1.2E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs757808169
rs757808169 		1.000 0.080 8 31090857 stop gained C/T snv 4.0E-06
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs758988621
rs758988621 		1.000 0.080 8 31064288 splice acceptor variant G/A snv 1.6E-05 2.1E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs759972548
rs759972548 		1.000 0.080 8 31141495 frameshift variant AG/- delins 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: rs774765029
rs774765029 		1.000 0.080 8 31124556 stop gained C/T snv 2.4E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs776963381
rs776963381 		1.000 0.080 8 31147052 splice acceptor variant G/A;T snv 2.0E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs778872619
rs778872619 		1.000 0.080 8 31143616 frameshift variant A/-;AA delins
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs780555196
rs780555196 		1.000 0.080 8 31088891 frameshift variant C/- del 2.8E-05 2.1E-05
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797045118
rs797045118 		1.000 0.080 8 31065045 frameshift variant GA/- delins 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: rs878854133
rs878854133 		1.000 0.080 8 31058455 frameshift variant A/-;AA delins 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: rs878854136
rs878854136 		1.000 0.080 8 31120338 frameshift variant -/AT 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: 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: 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