Submitter Handle CLINSEQ_SNP Submitter SNP ID SNV-chr1-20897488 RefSNP(rs#) rs522496 Submitted Batch ID Submission1_FEB2012 Submitted Date Mar 06, 2012 Publication Cited 19602640 First entry to dbSNP Mar 6 2012 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 AGILENTWHOLEEXOME Ascertainment Samplesize 1322 Population CSAgilent Allele Observed Allele C/T Ancestral Allele N.D. Allele Origin N/A SNP Class SNV CpG Code N.D. Validation Validation Status HWE Goodness of Fit not applicable Variation Frequency Submission population count: 1 Genotype Summary population count: 1 Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss491587975|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic CGGATCAGCT GCTTCTCGGC CTCCA Y GTCATGCTGG ATCACAGGTT GGGGC   Submitted Frequency for ss491587975 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter CSAgilent - EUROPE 1322 C/T=0.45800000 T/T=0.41900000 C/C=0.12300000 Submission1_FEB2012 CLINSEQ_SNP   dbSNP summary of Genotypes for ss491587975 Population ID  -Class Total Sample (2N) Founder (2N) Major Allele Freq. Minor Allele Freq. Genotype Freq. HWE Goodness of Fit Data Source CSAgilent - EUROPE 1321 1322.00004577637 T=0.64800000 C=0.35200000 C/T=0.45800000 T/T=0.41900003 C/C=0.12300000 Pr(chiSq=0.010,df=1) =1.000 Genotype Freq.   Submitted individual genotype for ss491587975 There is no individual genotype data for ss491587975.

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