Submitter Handle GNOMAD Submitter SNP ID gnomad_2_239053036 RefSNP(rs#) rs1489653105 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 -/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|ss2788091449|allelePos=26|len=51|taxid=9606|alleles='-/C'|mol=Genomic GAAGGAAGGA AGGAAGGAAG GAAGG N AAGGAAGGAA GGAAGGAAGG AAGGA   Submitted Frequency for ss2788091449 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 622 -=1.00000000 C=0.00000000 gnomad-AMR GNOMAD MALE 12486 -=0.99983984 C=0.00016018 gnomad-MALE GNOMAD ASJ 210 -=1.00000000 C=0.00000000 gnomad-ASJ GNOMAD FIN 2940 -=1.00000000 C=0.00000000 gnomad-FIN GNOMAD OTH 706 -=1.00000000 C=0.00000000 gnomad-OTH GNOMAD AFR 6140 -=1.00000000 C=0.00000000 gnomad-AFR GNOMAD EAS 1186 -=0.99831367 C=0.00168634 gnomad-EAS GNOMAD FEMALE 10186 -=1.00000000 C=0.00000000 gnomad-FEMALE GNOMAD NFE 10868 -=1.00000000 C=0.00000000 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2788091449 No sufficient data to compute Hardy-weinberg probability for ss2788091449.   Submitted individual genotype for ss2788091449 There is no individual genotype data for ss2788091449.

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