Submitter Handle GNOMAD Submitter SNP ID gnomad_2_130729868 RefSNP(rs#) rs1489281714 Submitted Batch ID genome_batch_chr2 Submitted Date May 17, 2017 Publication Cited N.D. First entry to dbSNP May 17 2017 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 GNOMAD Ascertainment Samplesize 30992 Population N.D. Allele Observed Allele T/C 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: 9 Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss2779548569|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic TATTTTGTTT TGGAAAATAA ATTTA Y ATGATCCTGT AAATGTGTAA GATAC   Submitted Frequency for ss2779548569 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 15012 T=0.99993336 C=0.00006661 gnomad-NFE GNOMAD OTH 982 T=1.00000000 C=0.00000000 gnomad-OTH GNOMAD EAS 1620 T=1.00000000 C=0.00000000 gnomad-EAS GNOMAD AMR 838 T=1.00000000 C=0.00000000 gnomad-AMR GNOMAD AFR 8732 T=1.00000000 C=0.00000000 gnomad-AFR GNOMAD ASJ 302 T=1.00000000 C=0.00000000 gnomad-ASJ GNOMAD MALE 17116 T=1.00000000 C=0.00000000 gnomad-MALE GNOMAD FIN 3490 T=1.00000000 C=0.00000000 gnomad-FIN GNOMAD FEMALE 13860 T=0.99992788 C=0.00007215 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2779548569 No sufficient data to compute Hardy-weinberg probability for ss2779548569.   Submitted individual genotype for ss2779548569 There is no individual genotype data for ss2779548569.

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