Submitter Handle GNOMAD Submitter SNP ID gnomad_5_126990114 RefSNP(rs#) rs1486763253 Submitted Batch ID genome_batch_chr5 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 T/- 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|ss2830482584|allelePos=26|len=51|taxid=9606|alleles='T/-'|mol=Genomic CAGTAGAGGA TGGTAAAACT TCAAA N TAAAACTGAT TTTAAAAATC ATTCT   Submitted Frequency for ss2830482584 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 838 T=1.00000000 -=0.00000000 gnomad-AMR GNOMAD MALE 17120 T=0.99994159 -=0.00005841 gnomad-MALE GNOMAD OTH 982 T=1.00000000 -=0.00000000 gnomad-OTH GNOMAD FIN 3494 T=1.00000000 -=0.00000000 gnomad-FIN GNOMAD EAS 1622 T=0.99876696 -=0.00123305 gnomad-EAS GNOMAD AFR 8730 T=1.00000000 -=0.00000000 gnomad-AFR GNOMAD NFE 15006 T=1.00000000 -=0.00000000 gnomad-NFE GNOMAD ASJ 302 T=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD FEMALE 13854 T=0.99992782 -=0.00007218 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2830482584 No sufficient data to compute Hardy-weinberg probability for ss2830482584.   Submitted individual genotype for ss2830482584 There is no individual genotype data for ss2830482584.

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