|
rs1131691003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131691042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs11540652
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28934576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28934578
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs55832599
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057520001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
|
7606201 |
1995 |
|
rs1801270
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
|
7606201 |
1995 |
|
rs770251749
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
|
7606201 |
1995 |
|
rs886039484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
|
7606201 |
1995 |
|
rs121913483
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We sought to clarify the frequency of the FGFR3 S249C mutation in 75 primary CC in the Thai population and to determine its prevalence in 69 primary NPC by PCR and restriction enzyme digestion.
|
11605053 |
2001 |
|
rs80358259
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment.
|
14639697 |
2003 |
|
rs2275531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype of the two missense PIGR SNPs, 1093G-->A and 1739C-->T, and sequence analyses have confirmed the role of the nucleotide PIGR1739 and excluded possibility of an additional significant nonsynonymous NPC susceptibility SNP.
|
12546713 |
2003 |
|
rs291102
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype of the two missense PIGR SNPs, 1093G-->A and 1739C-->T, and sequence analyses have confirmed the role of the nucleotide PIGR1739 and excluded possibility of an additional significant nonsynonymous NPC susceptibility SNP.
|
12546713 |
2003 |
|
rs2269432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations and analysis of association with nasopharyngeal cancer.
|
15036368 |
2004 |
|
rs28942108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In two siblings with Niemann-Pick type C (NPC) disease we identified two mutations of the NPC1 gene: i) one in exon 20 (c.2932C>T) (p.R978C) previously reported in NPC patients; ii) the other (c.882-28A>G) unreported, in the highly conserved adenosine of a putative lariat BPS of intron 6.
|
15459971 |
2004 |
|
rs55724504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also identified three novel changes [V562V (c.1686G>A), A580A (c.1740C>G) and A1187A (c.3561G>T)] in three independent NPC patients and five polymorphisms that have been described previously.
|
16098014 |
2005 |
|
rs25487
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Compared with those with the Arg399Arg genotype, the risk for NPC was not significantly different in individuals with the Arg399Gln genotype (OR = 0.82; 95% CI, 0.62-1.08) and the Gln399Gln genotype (OR = 1.20; 95% CI, 0.69-2.06).
|
16796765 |
2006 |
|
rs1799782
|
|
|
0.050 |
GeneticVariation |
BEFREE |
After adjustment for sex and age, we found a reduced risk of developing NPC in individuals with the Trp194Trp genotype (OR = 0.48; 95% CI, 0.27-0.86) and the Arg194Trp genotype (OR = 0.79; 95% CI, 0.60-1.05) compared with those with the Arg194Arg genotype.
|
16796765 |
2006 |
|
rs1799782
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our results showed that XRCC1 codon 194 Trp allele was associated with an increased risk of NPC (odds ratio [OR] = 1.828, 95% confidence interval [CI]: 1.286-2.598), and XPD codon 751Gln allele was associated with a borderline decrease of NPC (OR = 0.600, 95% CI: 0.361-1.000); combination analysis showed that individuals with both putative genotypes of XPD codon 751 Lys/Lys and XRCC1 codon 194 Arg/Trp or Trp/Trp have a significantly elevated risk of NPC (OR = 2.708, 95% CI: 1.338-5.478).
|
17630853 |
2007 |
|
rs861539
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To investigate the effect of XPD Lys751Gln, XRCC1 Arg399Gln, Arg194Trp, Arg280His, and XRCC3 Thr241Met polymorphisms on the risk of nasopharyngeal carcinoma (NPC), a population-based case-control study of 153 NPC patients and 168 healthy controls among Sichuan population was conducted.
|
17630853 |
2007 |
|
rs2285053
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We observed significantly increased susceptibility to NPC for the MMP2 -1306CC (rs243865:C>T) (odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.30-3.10) and -735CC (rs2285053:C>T) (OR = 1.56, 95% CI = 1.17-2.09) genotype carriers compared with noncarriers in the Guangxi population.
|
17607721 |
2007 |
|
rs1800470
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed 2 single nucleotide polymorphisms (SNPs) of TGF-beta1 gene promoter -509C/T and 869T/C (Leu10Pro) at exon one in 108 patients with NPC and 120 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy.
|
17368597 |
2007 |
|
rs2228000
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data demonstrated that XPC 499Val allele and its haplotype were strongly associated with NPC, which indicated that Val499Ala polymorphism may be a contributing factor in the NPC development.
|
17882560 |
2008 |
|
rs2228001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aims of this study were to examine the association between XPC Val499Ala, Lys939Gln, PAT polymorphisms and the genetic susceptibility of nasopharyngeal carcinoma (NPC) in Chinese population.
|
17882560 |
2008 |