Submitter Handle GNOMAD Submitter SNP ID gnomad_12_124799037 RefSNP(rs#) rs1400823717 Submitted Batch ID genome_batch_chr12 Submitted Date May 22, 2017 Publication Cited N.D. First entry to dbSNP May 22 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/T 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|ss2916261730|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic GTGCAGCTGC AGCTTTGCCA GGACC Y TGCCCCCAGC CTCCTGGGCC CTGCC   Submitted Frequency for ss2916261730 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 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD AFR 8718 C=1.00000000 T=0.00000000 gnomad-AFR GNOMAD FIN 3490 C=1.00000000 T=0.00000000 gnomad-FIN GNOMAD MALE 17096 C=1.00000000 T=0.00000000 gnomad-MALE GNOMAD OTH 982 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD FEMALE 13840 C=0.99992776 T=0.00007225 gnomad-FEMALE GNOMAD NFE 14984 C=0.99993324 T=0.00006674 gnomad-NFE GNOMAD ASJ 302 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD EAS 1622 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2916261730 No sufficient data to compute Hardy-weinberg probability for ss2916261730.   Submitted individual genotype for ss2916261730 There is no individual genotype data for ss2916261730.

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