Submitter Handle CLINSEQ_SNP Submitter SNP ID SNV-chr19-50144269 RefSNP(rs#) rs5126 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 1310 Population CSAgilent Allele Observed Allele A/C Ancestral Allele N.D. Allele Origin A:Germline C:Germline SNP Class SNV CpG Code N.D. Validation Validation Status Not Validated 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|ss491769750|allelePos=26|len=51|taxid=9606|alleles='A/C'|mol=Genomic CTTTCTCCCC AGGGACTTGT ACAGC M AAAGCACAGC AGCCATGAGC ACTTA   Submitted Frequency for ss491769750 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 1310 A/A=0.99800003 A/C=0.00200000 Submission1_FEB2012 CLINSEQ_SNP   dbSNP summary of Genotypes for ss491769750 Population ID  -Class Total Sample (2N) Founder (2N) Major Allele Freq. Minor Allele Freq. Genotype Freq. HWE Goodness of Fit Data Source CSAgilent - EUROPE 1309 1310.00000476837 A=0.99900001 C=0.00100000 A/A=0.99800003 A/C=0.00200000 Pr(chiSq=0.000,df=1) =1.000 Genotype Freq.   Submitted individual genotype for ss491769750 There is no individual genotype data for ss491769750.

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