WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Disease: Werner Syndrome ×
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: 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