Submitter Handle GNOMAD Submitter SNP ID gnomad_3_196090121 RefSNP(rs#) rs1491307821 Submitted Batch ID genome_batch_chr3 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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 -/C Ancestral Allele N.D. Allele Origin N/A SNP Class DIV 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|ss2804348734|allelePos=26|len=51|taxid=9606|alleles='-/C'|mol=Genomic ACATACATAC ATACATACAT ACATA N AATATATATA TACACATATT TTTTT   Submitted Frequency for ss2804348734 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13358 -=0.99917650 C=0.00082348 gnomad-FEMALE GNOMAD MALE 16502 -=0.99921221 C=0.00078778 gnomad-MALE GNOMAD NFE 14586 -=0.99972576 C=0.00027424 gnomad-NFE GNOMAD EAS 1524 -=0.98884517 C=0.01115486 gnomad-EAS GNOMAD OTH 938 -=1.00000000 C=0.00000000 gnomad-OTH GNOMAD ASJ 296 -=1.00000000 C=0.00000000 gnomad-ASJ GNOMAD AFR 8474 -=0.99964595 C=0.00035402 gnomad-AFR GNOMAD FIN 3240 -=1.00000000 C=0.00000000 gnomad-FIN GNOMAD AMR 802 -=1.00000000 C=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2804348734 No sufficient data to compute Hardy-weinberg probability for ss2804348734.   Submitted individual genotype for ss2804348734 There is no individual genotype data for ss2804348734.

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