Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908448
rs121908448
WRN
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
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
T 0.720 CausalMutation CLINVAR

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

2006

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR Clinical utility gene card for: Werner Syndrome--Update 2014. 25182132

2015

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture. 25390333

2014

dbSNP: rs763089663
rs763089663
WRN
T 0.700 CausalMutation CLINVAR WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. 20443122

2010

dbSNP: rs776785728
rs776785728
WRN
T 0.700 CausalMutation CLINVAR The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. 18810497

2008

dbSNP: rs113993961
rs113993961
WRN
C 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

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

2006

dbSNP: rs143916053
rs143916053
WRN
T 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

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

2006

dbSNP: rs1563341296
rs1563341296
WRN
G 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs1563376793
rs1563376793
WRN
C 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006

dbSNP: rs267607008
rs267607008
WRN
0.700 GeneticVariation UNIPROT The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs387906337
rs387906337
WRN
0.700 GeneticVariation UNIPROT The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs772319506
rs772319506
WRN
G 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs777096501
rs777096501
WRN
A 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs878854131
rs878854131
WRN
G 0.700 GeneticVariation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006

dbSNP: rs878854131
rs878854131
WRN
G 0.700 CausalMutation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006