WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908448
rs121908448
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
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
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
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
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease:
Werner Syndrome
T 0.720 CausalMutation CLINVAR
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
dbSNP: rs10954779
rs10954779
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0021704
Disease:
Intelligence
T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs1800389
rs1800389
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10954779
rs10954779
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0021704
Disease:
Intelligence
T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs16877794
rs16877794
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs41520844
rs41520844
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs41520844
rs41520844
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs11574294
rs11574294
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11574304
rs11574304
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11574311
rs11574311
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11574341
rs11574341
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1425295
rs1425295
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1800392
rs1800392
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2553278
rs2553278
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2725352
rs2725352
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2725361
rs2725361
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2725361
rs2725361
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2737333
rs2737333
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2737334
rs2737334
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017