Submitter Handle GNOMAD Submitter SNP ID gnomad_2_56319084 RefSNP(rs#) rs1489693351 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 CTCA/- 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|ss2773760075|allelePos=26|len=51|taxid=9606|alleles='CTCA/-'|mol=Genomic AGCAGACTGG CTTGGCATAC TCACT N CTCCTTATTA GCATAAGGAC CCTGA   Submitted Frequency for ss2773760075 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 924 CTCA=0.99891776 -=0.00108225 gnomad-OTH GNOMAD AFR 8564 CTCA=1.00000000 -=0.00000000 gnomad-AFR GNOMAD MALE 16698 CTCA=0.99994010 -=0.00005989 gnomad-MALE GNOMAD ASJ 300 CTCA=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD NFE 14508 CTCA=1.00000000 -=0.00000000 gnomad-NFE GNOMAD FEMALE 13392 CTCA=1.00000000 -=0.00000000 gnomad-FEMALE GNOMAD EAS 1622 CTCA=1.00000000 -=0.00000000 gnomad-EAS GNOMAD FIN 3356 CTCA=1.00000000 -=0.00000000 gnomad-FIN GNOMAD AMR 816 CTCA=1.00000000 -=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2773760075 No sufficient data to compute Hardy-weinberg probability for ss2773760075.   Submitted individual genotype for ss2773760075 There is no individual genotype data for ss2773760075.

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