Submitter Handle GNOMAD Submitter SNP ID gnomad_21_32118653 RefSNP(rs#) rs1485597642 Submitted Batch ID genome_batch_chr21 Submitted Date May 23, 2017 Publication Cited N.D. First entry to dbSNP May 23 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 G/A Ancestral Allele N.D. Allele Origin N/A SNP Class SNV 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|ss2971235405|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic AACTAGTGCA TTAACCTCAT GAGTA R ATCCCCTGTC TCATTCTTGG TTCTA   Submitted Frequency for ss2971235405 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 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD AFR 8726 G=0.99977082 A=0.00022920 gnomad-AFR GNOMAD OTH 982 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD MALE 17116 G=1.00000000 A=0.00000000 gnomad-MALE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD FEMALE 13854 G=0.99985564 A=0.00014436 gnomad-FEMALE GNOMAD NFE 15008 G=1.00000000 A=0.00000000 gnomad-NFE GNOMAD EAS 1620 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD FIN 3494 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2971235405 No sufficient data to compute Hardy-weinberg probability for ss2971235405.   Submitted individual genotype for ss2971235405 There is no individual genotype data for ss2971235405.

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