Submitter Handle GNOMAD Submitter SNP ID gnomad_21_29910726 RefSNP(rs#) rs1482974845 Submitted Batch ID genome_batch_chr21 Submitted Date May 23, 2017 Publication Cited N.D. First entry to dbSNP May 23 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 A/T 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|ss2971059725|allelePos=26|len=51|taxid=9606|alleles='A/T'|mol=Genomic CCAAAGTGCT GGGATTACAG GCGTG W GCCACCGTGC CCGGCCTGAA CTCTT   Submitted Frequency for ss2971059725 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter ASJ 302 A=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD NFE 14994 A=0.99993330 T=0.00006669 gnomad-NFE GNOMAD OTH 978 A=1.00000000 T=0.00000000 gnomad-OTH GNOMAD MALE 17108 A=0.99994153 T=0.00005845 gnomad-MALE GNOMAD AMR 838 A=1.00000000 T=0.00000000 gnomad-AMR GNOMAD EAS 1622 A=1.00000000 T=0.00000000 gnomad-EAS GNOMAD AFR 8728 A=1.00000000 T=0.00000000 gnomad-AFR GNOMAD FIN 3488 A=1.00000000 T=0.00000000 gnomad-FIN GNOMAD FEMALE 13842 A=1.00000000 T=0.00000000 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2971059725 No sufficient data to compute Hardy-weinberg probability for ss2971059725.   Submitted individual genotype for ss2971059725 There is no individual genotype data for ss2971059725.

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