WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Disease: Werner Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747319628
rs747319628
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
Werner Syndrome 		T 0.710 CausalMutation CLINVAR A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. 22188495 2012
dbSNP: rs747319628
rs747319628
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
Werner Syndrome 		0.710 GeneticVariation BEFREE A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. 22188495 2012
dbSNP: rs747319628
rs747319628
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
Werner Syndrome 		T 0.710 GeneticVariation CLINVAR A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. 22188495 2012
dbSNP: rs747319628
rs747319628
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
Werner Syndrome 		T 0.710 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358 2006