Submitter Handle GNOMAD Submitter SNP ID gnomad_6_49524967 RefSNP(rs#) rs1489435177 Submitted Batch ID genome_batch_chr6 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 -/AAT 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|ss2838878978|allelePos=26|len=51|taxid=9606|alleles='-/AAT'|mol=Genomic CAACAAGAGC AAAACTCCAT CTCAA N AATAATAATA ATAATTAATA AATAA   Submitted Frequency for ss2838878978 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13852 -=0.99992782 AAT=0.00007219 gnomad-FEMALE GNOMAD FIN 3488 -=1.00000000 AAT=0.00000000 gnomad-FIN GNOMAD MALE 17116 -=0.99988317 AAT=0.00011685 gnomad-MALE GNOMAD ASJ 302 -=1.00000000 AAT=0.00000000 gnomad-ASJ GNOMAD AMR 836 -=1.00000000 AAT=0.00000000 gnomad-AMR GNOMAD OTH 980 -=1.00000000 AAT=0.00000000 gnomad-OTH GNOMAD AFR 8730 -=0.99988544 AAT=0.00011455 gnomad-AFR GNOMAD EAS 1622 -=1.00000000 AAT=0.00000000 gnomad-EAS GNOMAD NFE 15010 -=0.99986678 AAT=0.00013324 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2838878978 No sufficient data to compute Hardy-weinberg probability for ss2838878978.   Submitted individual genotype for ss2838878978 There is no individual genotype data for ss2838878978.

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