Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908448
rs121908448
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.720 GeneticVariation BEFREE Inhibition of endogenous WRN, through co-expression of WRN(K577M), diminishes recruitment of p300/CREB-binding protein-associated factor (PCAF) and positive transcription elongation factor b (P-TEFb) to Tat/transactivation response-RNA complexes, and immortalized WRN(-/-) WS fibroblasts exhibit comparable defects in recruitment of PCAF and P-TEFb to the HIV-1 LTR. 17317667

2007
dbSNP: rs121908448
rs121908448
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.720 GeneticVariation BEFREE Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein. 10628995

2000
dbSNP: rs121908448
rs121908448
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.720 CausalMutation CLINVAR

dbSNP: rs747319628
rs747319628
WRN
CUI: C0043119
Disease: Werner Syndrome
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
WRN
CUI: C0043119
Disease: Werner Syndrome
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
WRN
CUI: C0043119
Disease: Werner Syndrome
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
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.710 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006
dbSNP: rs113993961
rs113993961
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		C 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006
dbSNP: rs113993961
rs113993961
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		C 0.700 CausalMutation CLINVAR Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products. 10543396

1999
dbSNP: rs113993961
rs113993961
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		C 0.700 CausalMutation CLINVAR Prevalence of Werner's syndrome heterozygotes in Japan. 10347997

1999
dbSNP: rs113993961
rs113993961
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		C 0.700 CausalMutation CLINVAR Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. 9225981

1997
dbSNP: rs113993961
rs113993961
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		C 0.700 CausalMutation CLINVAR Positional cloning of the Werner's syndrome gene. 8602509

1996
dbSNP: rs1198210848
rs1198210848
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908446
rs121908446
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. 9012406

1997
dbSNP: rs121908446
rs121908446
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.700 CausalMutation CLINVAR Positional cloning of the Werner's syndrome gene. 8602509

1996
dbSNP: rs121908447
rs121908447
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1244318419
rs1244318419
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1281075870
rs1281075870
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		A 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006
dbSNP: rs1284409960
rs1284409960
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1303126572
rs1303126572
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1361270203
rs1361270203
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		CCT 0.700 CausalMutation CLINVAR

dbSNP: rs1383589957
rs1383589957
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		G 0.700 CausalMutation CLINVAR A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay. 15888165

2005
dbSNP: rs143916053
rs143916053
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		T 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006
dbSNP: rs1554519254
rs1554519254
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		GAA 0.700 CausalMutation CLINVAR

dbSNP: rs1554519449
rs1554519449
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		A 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006