Submitter Handle GNOMAD Submitter SNP ID gnomad_4_10147 RefSNP(rs#) clustering in process Submitted Batch ID genome_batch_chr4 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 CTAACCCTAACCCTAACG/- 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|ss2804516964|allelePos=26|len=51|taxid=9606|alleles='CTAACCCTAACCCTAACG/-'|mol=Genomic CCTAACCCTA ACCCTAACCC TAACC N CTAACCCTAA CCCTAACCCT AACCC   Submitted Frequency for ss2804516964 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 8818 CTAACCCTAACCCTAACG=1.00000000 -=0.00000000 gnomad-NFE GNOMAD FIN 2396 CTAACCCTAACCCTAACG=1.00000000 -=0.00000000 gnomad-FIN GNOMAD ASJ 166 CTAACCCTAACCCTAACG=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD MALE 11238 CTAACCCTAACCCTAACG=0.99946612 -=0.00053390 gnomad-MALE GNOMAD EAS 1150 CTAACCCTAACCCTAACG=1.00000000 -=0.00000000 gnomad-EAS GNOMAD OTH 628 CTAACCCTAACCCTAACG=0.99840766 -=0.00159236 gnomad-OTH GNOMAD AMR 542 CTAACCCTAACCCTAACG=1.00000000 -=0.00000000 gnomad-AMR GNOMAD FEMALE 8912 CTAACCCTAACCCTAACG=0.99932677 -=0.00067325 gnomad-FEMALE GNOMAD AFR 6450 CTAACCCTAACCCTAACG=0.99829459 -=0.00170543 gnomad-AFR GNOMAD   dbSNP summary of Genotypes for ss2804516964 No sufficient data to compute Hardy-weinberg probability for ss2804516964.   Submitted individual genotype for ss2804516964 There is no individual genotype data for ss2804516964.

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