Submitter Handle EVA_EXAC Submitter SNP ID EVA_EXAC_4452008 RefSNP(rs#) rs5290 Submitted Batch ID EXAC_0.3 Submitted Date Mar 04, 2015 Publication Cited N.D. First entry to dbSNP Mar 4 2015 12:00:00:000AM Resource Links Submitted Gene Name N.D Submitted Gene ID N.D. Submitted SNP Synonyms N.D Submitted linkout N.D Assay Species Homo sapiens Molecular Type genomic Method EXAC_0.3 Ascertainment Samplesize 60706 Population ExAc_Aggregated_Populations Allele Observed Allele A/G Ancestral Allele N.D. Allele Origin N/A SNP Class SNV CpG Code N.D. Validation Validation Status Not Validated HWE Goodness of Fit not applicable Homozygote Detected PCR Confirmed In Expressed Sequence Variation Frequency Submission population count: 1 Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss1689343350|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic GAGGGCGGCT GAAGGCCAGT TCCTG R TAGATTTTCT GGATACAGTT GTCGC   Submitted Frequency for ss1689343350 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter ExAc_Aggregated_Populations 115270 A=0.99885488 G=0.00114514 EXAC_0.3 EVA_EXAC   dbSNP summary of Genotypes for ss1689343350 No sufficient data to compute Hardy-weinberg probability for ss1689343350.   Submitted individual genotype for ss1689343350 There is no individual genotype data for ss1689343350.

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