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Table S1: SNPs associated with VTE in meta-analysis, P<5x10-6 (excluding SNPs in Table 2)

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Table S1: SNPs associated with VTE in meta-analysis, P<5x10-6 (excluding SNPs in Table 2) One hundred and fourteen SNPs were associated with risk of VTE in ALL, significance level P <5x10-6, excluding top SNPs listed in Table 2. SNPs are ordered by chromosomal position. "Chr", chromosome, "Position", genomic position, "SNP ID", rs identification number for single nucleotide polymorphism. "Allele 1" and "Allele 2" refer to nomenclature from METAL meta-analysis software, where Allele 1 is the Reference allele. "MAF", minor allele frequency, as per Genomic Coordinates in SNPNexus database (http://www.snp-nexus.org) which is synchronised with the UCSC human genome annotation database (http://genome.ucsc.edu). "StdError", standard error. "Direction" refers to direction of effect of the SNP in each cohort, thus "++" refers to concordant positively- associated effect with VTE risk,  "-?" refers to a negative effect in the first cohort, and an unknown effect in the second cohort. "OR", odds ratio.  "Lower_95C", lower 95% confidence interval of OR, "Upper_95CI", upper 95% confidence interval of OR. "Gene" and "location" refers to consensus gene and location of the SNP in relation to introns/exons of the associated gene, determined through SNPnexus cross-referencing of UCSC, Refseq and Ensembl databases. Where there was discordance, the information from dbSNP 151 was used. "Intronic", located in the intron of a coding gene, "3utr", located within 3 prime untranslated region, "coding" located in the exonic region of a protein coding gene, "non-coding intronic", located in intron of a non-coding gene, "3downstream", located 2 kb downstream of the 3' end of a transcript. "NA", not applicable or not known.
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2020-02-26
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