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: 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