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GeneRIF Experiment

From SNPedia

The snps below were unknown to snpedia, when they were first mined from GeneRIF. Now I am watching the rate at which they are discovered and added to SNPedia, as an estimate of coverage.



  • rs734232 These results fail to support rs734232 as a psoriasis susceptibility factor in German psoriasis patients.
  • rs11200638 findings show a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for age-related macular degeneration at 10q26
  • rs11200638 HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular age-related macular degeneration .
  • rs241448 Several TAP gene polymorphisms were examined and a TAP2 SNP (rs241448) associated with AD found in two independent case-control samples, especially in carriers of the APOE4 allele.
  • rs1799899 it was concluded that PAI-1 promoter polymorphism 4G -> 5G (rs1799899) is not associated with the aggressiveness of disease in prostate cancer
  • rs1801133 Variant MTHFR allele which lowers activity of MTHFR enzyme and has been linked to several syndromes in some populations, including coronary artery disease and neural tube defects.
  • rs943580 One angiotensinogen single nucleotide polymorphism (rs943580) significantly associated with transmitral early peak filling velocity in blacks; no haplotypes significantly associated with left ventricular phenotypes.
  • rs13133980 rs13133980 associated significantly with age of onset in Alzheimer disease. Genetic variations in APBB2 may affect late onset AD susceptibility.
  • rs165849 Evidence was found for association of illness to rs165849 in ARVCF, and a stronger signal from three-marker haplotypes spanning the 3' portions of COMT and ARVCF. Val(108/158)Met was in linkage disequilibrium with the markers in ARVCF.
  • rs603965 Study evaluated associations odds ratios and 95% confidence intervals in polymorphisms of seven candidate genes in 1,172 non-Hodgkin lymphoma (NHL) cases and 982 population-based controls, the cyclin D1 splice variant G870A (rs603965) increased NHL risk.
  • rs733722 one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors
  • rs1800875 Significant association between the CMA1 promoter polymorphism rs1800875 and atopic eczema supports the hypothesis that CMA1 serves as candidate gene for atopic eczema.
  • rs615599 We have typed the IVS 1 rs737865 and 3' rs615599 sites and also included a novel IVS 1 indel polymorphism. We report that the schizophrenia-associated haplotype is significantly heterogeneous in populations worldwide.
  • rs2097603 epistasis between SNPs in COMT (rs2097603, Val158Met (rs4680), rs165599) and polymorphisms in other schizophrenia susceptibility genes
  • rs2519152 Single nucleotide polymorphisms(rs2519152) associates with plasma dopamine beta-hydroxylase activity (pDbetaH) in attention-deficit/hyperactivity disorder.
  • rs4343 These results suggest that a variant (of Angiotensin-converting enzyme) in close proximity to rs4343 and rs4351 modulates susceptibility to AD in this community.
  • rs4351 These results suggest that a variant (of Angiotensin-converting enzyme) in close proximity to rs4343 and rs4351 modulates susceptibility to AD in this community.
  • rs8033037 One of the SNPs, rs8033037, in exon 15 showed a significant correlation with the adult height, suggesting that FBN1 is one of the 'stature genes' of normal individuals.
  • rs3800373 The rs3800373 polymorphism in the FKBP5 gene explains 14% of the variation in peritraumatic dissociation in injured children.
  • rs7121 GNAS T393C (rs7121) localizes to a recombination hotspot not in linkage disequilibrium with the rest of GNAS gene locus
  • rs1806201 These findings suggest new candidate SNPs(rs1806201) in GRIN2B for studying the genetic susceptibility to alcoholism.
  • rs1946518 -607 A/C (rs1946518) and -137 G/C (rs187238) polymorphisms within the IL-18-promoter region do not play a major role in rheumatoid arthritis predisposition
  • rs187238 -607 A/C (rs1946518) and -137 G/C (rs187238) polymorphisms within the IL-18-promoter region do not play a major role in rheumatoid arthritis predisposition
  • rs2656070 Two mutations,rs2656070 and rs13180 showed statistically significant skewing of allelic and genotypic distributions between Alzheimer's disease patients and controls
  • rs13180 Two mutations,rs2656070 and rs13180 showed statistically significant skewing of allelic and genotypic distributions between Alzheimer's disease patients and controls
  • rs727957 A a variant upstream of the KCNE1 gene (rs727957, +1.2 ms/allele, P=0.0051)is associated with QT interval length.
  • rs1805123 2 SNPs in the KCNH2 gene, the previously described K897T variant (rs1805123, -1.9 ms/allele, P=0.0006) & a gene variant that tags a different haplotype in the same block (rs3815459, +1.7 ms/allele, P=0.0004)are associated with QT interval length.
  • rs3815459 2 SNPs in the KCNH2 gene, the previously described K897T variant (rs1805123, -1.9 ms/allele, P=0.0006) & a gene variant that tags a different haplotype in the same block (rs3815459, +1.7 ms/allele, P=0.0004)are associated with QT interval length.
  • rs757092 A variant in intron 1 of the KCNQ1 gene (rs757092, +1.7 ms/allele) is associated with QT interval length.
  • rs757092 A variant in intron 1 of the KCNQ1 gene (rs757092, +1.7 ms/allele) is associated with QT interval length.
  • rs3759223 An SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.
  • rs2664538 SNP rs2664538, which is located at the MMP9 gene, is likely to be associated with acute primary angle closure glaucoma.
  • rs2071430 No significant association was found between the MXA genotype and promoter region single nucleotide polymorphisms (rs2071430 and rs17000900) and the gene expression responses, clinical and MRI phenotypes in IFN-beta treated multiple sclerosis patients.
  • rs17000900 No significant association was found between the MXA genotype and promoter region single nucleotide polymorphisms (rs2071430 and rs17000900) and the gene expression responses, clinical and MRI phenotypes in IFN-beta treated multiple sclerosis patients.
  • rs235858 SNP rs235858 at the 3' flanking region showed the highest degree of confidence for association.
  • rs367398 4 functional SNPs (rs367398, rs915894, rs520692 & rs422951) at the NOTCH4 locus among 141 schizophrenic family trios of Chinese Han descent. Of these 4 SNPs, rs520692 was the only one associated with schizophrenia.
  • rs915894 4 functional SNPs (rs367398, rs915894, rs520692 & rs422951) at the NOTCH4 locus among 141 schizophrenic family trios of Chinese Han descent. Of these 4 SNPs, rs520692 was the only one associated with schizophrenia.
  • rs520692 4 functional SNPs (rs367398, rs915894, rs520692 & rs422951) at the NOTCH4 locus among 141 schizophrenic family trios of Chinese Han descent. Of these 4 SNPs, rs520692 was the only one associated with schizophrenia.
  • rs422951 4 functional SNPs (rs367398, rs915894, rs520692 & rs422951) at the NOTCH4 locus among 141 schizophrenic family trios of Chinese Han descent. Of these 4 SNPs, rs520692 was the only one associated with schizophrenia.
  • rs520692 4 functional SNPs (rs367398, rs915894, rs520692 & rs422951) at the NOTCH4 locus among 141 schizophrenic family trios of Chinese Han descent. Of these 4 SNPs, rs520692 was the only one associated with schizophrenia.
  • rs367398 The 3 SNPs (rs367398, rs2071282, & rs422952)are not associated with the onset of schizophrenia. The linkage disequilibrium of this locus indicates that there is genetic heterogeneity in the Notch4 gene.
  • rs2071282 The 3 SNPs (rs367398, rs2071282, & rs422952)are not associated with the onset of schizophrenia. The linkage disequilibrium of this locus indicates that there is genetic heterogeneity in the Notch4 gene.
  • rs422952 The 3 SNPs (rs367398, rs2071282, & rs422952)are not associated with the onset of schizophrenia. The linkage disequilibrium of this locus indicates that there is genetic heterogeneity in the Notch4 gene.
  • rs2233678 two promoter polymorphisms (rs2233678 and rs2233679)in PIN1 do not make a significant contribution to AD risk.
  • rs2233679 two promoter polymorphisms (rs2233678 and rs2233679)in PIN1 do not make a significant contribution to AD risk.
  • rs10828317 The strongest evidence for schizophrenia association was found for the A-allele of SNP rs10828317 in the PIP5K2A gene, which was associated with both clinical subtypes. This SNP leads to a change in protein composition.
  • rs7007329 the G-T haplotype at rs7007329-rs8178750 of the tPA gene may have a role in development of ischemic stroke
  • rs8178750 the G-T haplotype at rs7007329-rs8178750 of the tPA gene may have a role in development of ischemic stroke
  • rs2227562 distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3' UTR) in the PLAU gene in a large case-control study of Alzheimer's disease
  • rs2227571 distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3' UTR) in the PLAU gene in a large case-control study of Alzheimer's disease
  • rs4065 distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3' UTR) in the PLAU gene in a large case-control study of Alzheimer's disease
  • rs4578621 The rs4578621 and rs894160 polymorphisms of the perilipin gene are not major genetic determinants of obesity and type 2 diabetes-related phenotypes in a random sample of French men and women.
  • rs894160 The rs4578621 and rs894160 polymorphisms of the perilipin gene are not major genetic determinants of obesity and type 2 diabetes-related phenotypes in a random sample of French men and women.
  • rs1044925 Our results indicate that the polymorphism rs1044925 in the 3' UTR of SOAT1 gene does not affect the risk of SAD in the northern Han-Chinese.
  • rs1126616 A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with systemic lupus erythematosus
  • rs1937 There was an association of genotype rs1937G/G with Alzheimer disease in females and an association of a TFAM haplotype with Alzheimer disease both in the whole sample and in females.
  • rs1009382 The transmission disequilibrium test did not show allelic association between these two TNXB single nucleotide polymorphisms and schizophrenia, and the rs1009382-rs204887 haplotypes were not associated with the illness either.
  • rs204887 The transmission disequilibrium test did not show allelic association between these two TNXB single nucleotide polymorphisms and schizophrenia, and the rs1009382-rs204887 haplotypes were not associated with the illness either.
  • rs2078486 This study observes statistically significant differences on SNP rs2078486 and on haplotype CAC. These results demonstrated that TP53 might play a role in susceptibility to schizophrenia.
  • rs2279238 One LXRA single nucleotide polymorphism, rs2279238, and one common haplotype, CAAGCC, as well as two LXRB single nucleotide polymorphisms, LB44732G>A and rs2695121, were associated with obesity phenotypes.
  • rs2695121 One LXRA single nucleotide polymorphism, rs2279238, and one common haplotype, CAAGCC, as well as two LXRB single nucleotide polymorphisms, LB44732G>A and rs2695121, were associated with obesity phenotypes.
  • rs2297660 In conclusion, results from the two independent samples of black women provide consistent evidence that SNP rs2297660 in LRP8 is associated with fetal growth.
  • rs3952 The PICK1 rs3952 polymorphism was genotyped in schizophrenia and controls. Results demonstrated that the PICK1 rs3952 genotype and allele distribution was significantly different between the two groups.
  • rs3952 The PICK1 rs3952 polymorphism was genotyped in schizophrenia and controls. Results demonstrated that the PICK1 rs3952 genotype and allele distribution was significantly different between the two groups.
  • rs2239670 AvaII polymorphism (rs2239670) in intron 1 of the CART gene is associated with alcoholism in the Korean male population.
  • rs2279238 One LXRA single nucleotide polymorphism, rs2279238, and one common haplotype, CAAGCC, as well as two LXRB single nucleotide polymorphisms, LB44732G>A and rs2695121, were associated with obesity phenotypes.
  • rs2695121 One LXRA single nucleotide polymorphism, rs2279238, and one common haplotype, CAAGCC, as well as two LXRB single nucleotide polymorphisms, LB44732G>A and rs2695121, were associated with obesity phenotypes.
  • rs9770242 A significant association was found between two SNPs of visfatin (rs9770242 and rs1319501), in perfect linkage disequilibrium, and fasting insulin levels (P = 0.002).
  • rs1319501 A significant association was found between two SNPs of visfatin (rs9770242 and rs1319501), in perfect linkage disequilibrium, and fasting insulin levels (P = 0.002).
  • rs696574 among women, the T allele of the SNP rs696574 (C --> T, in intron 6) was significantly more frequent in essential hypertension subjects
  • rs10008257 Genetic association study revealed the association of single nucleotide polymorphism (SNP)1 (rs10008257) with bipolar disorder.
  • rs4693608 4 Israeli Jewish populations (Ashkenazi, North African, Mediterranean and Near Eastern) were examined for 7 HPSE gene SNPs. Four out of 7 SNPs (rs4693608, db11099592, rs4364254, db6856901) were found to be polymorphic.
  • rs4364254 4 Israeli Jewish populations (Ashkenazi, North African, Mediterranean and Near Eastern) were examined for 7 HPSE gene SNPs. Four out of 7 SNPs (rs4693608, db11099592, rs4364254, db6856901) were found to be polymorphic.
  • rs754203 The GG genotype of the known rs754203 polymorphic site might be a risk factor for AD, especially in APOE varepsilon4 carriers. Interestingly, in AD patients the rs754203 G allele was more frequent in males than in females.
  • rs754203 The GG genotype of the known rs754203 polymorphic site might be a risk factor for AD, especially in APOE varepsilon4 carriers. Interestingly, in AD patients the rs754203 G allele was more frequent in males than in females.
  • rs3817622 The results of this study suggest that there is an association between rs3817622 and the development of LOAD in APOE epsilon4 carriers within the northern Chinese population. It is possible allele A of the Pen2 gene increases the risk for LOAD.
  • rs2396753 The single nucleotide polymorphism rs2396753 appears to confer vulnerability to schizophrenia with auditory hallucinations.
  • rs12520799 Marker rs12520799, in dendritic cell nuclear protein 1 on chromosome 5, yielded a significant association with lifetime major depression.
  • rs3916965 identified statistically significant differences in allele distributions of two markers rs3916965 and rs2391191, and a highly significant association between haplotype AGAC of the G72/G30 locus and schizophrenia in the Chinese population
  • rs2391191 identified statistically significant differences in allele distributions of two markers rs3916965 and rs2391191, and a highly significant association between haplotype AGAC of the G72/G30 locus and schizophrenia in the Chinese population
  • rs778293 A statistically significant association was found between rs778293 and schizophrenia in Asian populations, but not European populations.
  • rs3916965 identified statistically significant differences in allele distributions of two markers rs3916965 and rs2391191, and a highly significant association between haplotype AGAC of the G72/G30 locus and schizophrenia in the Chinese population
  • rs2391191 identified statistically significant differences in allele distributions of two markers rs3916965 and rs2391191, and a highly significant association between haplotype AGAC of the G72/G30 locus and schizophrenia in the Chinese population
  • rs778293 A statistically significant association was found between rs778293 and schizophrenia in Asian populations, but not European populations.
  • rs7254880 In analyses of genetically independent cases and controls, four of the seven single markers show strong evidence for association with alcohol dependence, and the most significant single marker, rs7254880, tags an associated haplotype with frequency 0.071.
  • rs3767155 TNAP haplotype rs3767155 (G)/rs3738099 (G)/rs1780329 (T) is a novel genetic marker in men that is significantly associated with ankylosing spondylitis in multiplex families containing affected individuals of both sexes.
  • rs3738099 TNAP haplotype rs3767155 (G)/rs3738099 (G)/rs1780329 (T) is a novel genetic marker in men that is significantly associated with ankylosing spondylitis in multiplex families containing affected individuals of both sexes.
  • rs1780329 TNAP haplotype rs3767155 (G)/rs3738099 (G)/rs1780329 (T) is a novel genetic marker in men that is significantly associated with ankylosing spondylitis in multiplex families containing affected individuals of both sexes.