Submitter Handle GNOMAD Submitter SNP ID gnomad_1_10067 RefSNP(rs#) rs1489251879 Submitted Batch ID genome_batch_chr1 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 -/AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC 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 Variation Frequency Submission population count: 9 Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss2137517383|allelePos=26|len=51|taxid=9606|alleles='-/AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC'|mol=Genomic TAACCCTAAC CCTAACCCTA ACCCT N AACCCTAACC CTAACCCTAA CCCTA   Submitted Frequency for ss2137517383 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 11672 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=0.99991399 -=0.00008600 gnomad-FEMALE GNOMAD EAS 1458 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-EAS GNOMAD AMR 670 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-AMR GNOMAD ASJ 276 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD NFE 12892 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-NFE GNOMAD FIN 2672 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=0.99962598 -=0.00037400 gnomad-FIN GNOMAD AFR 7310 A=0.90681797 G=0.09318200 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-AFR GNOMAD MALE 14446 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-MALE GNOMAD OTH 840 AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=1.00000000 -=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2137517383 No sufficient data to compute Hardy-weinberg probability for ss2137517383.   Submitted individual genotype for ss2137517383 There is no individual genotype data for ss2137517383.

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