Submitter Handle GNOMAD Submitter SNP ID rs139701761 RefSNP(rs#) rs139701761 Submitted Batch ID genome_batch_chr1 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 -/TACCTGAA 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|ss2750672927|allelePos=26|len=51|taxid=9606|alleles='-/TACCTGAA'|mol=Genomic AATTCTTCTG CCTCAGCCTC CTGAG N TAGCTGGGAC TACAGGCACG TGCCA   Submitted Frequency for ss2750672927 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8712 -=0.91310835 TACCTGAA=0.08689164 gnomad-AFR GNOMAD MALE 17096 -=0.97280067 TACCTGAA=0.02719934 gnomad-MALE GNOMAD AMR 838 -=0.99522674 TACCTGAA=0.00477327 gnomad-AMR GNOMAD OTH 982 -=0.99389005 TACCTGAA=0.00610998 gnomad-OTH GNOMAD EAS 1620 -=1.00000000 TACCTGAA=0.00000000 gnomad-EAS GNOMAD FIN 3492 -=0.99914092 TACCTGAA=0.00085911 gnomad-FIN GNOMAD ASJ 302 -=0.99337751 TACCTGAA=0.00662252 gnomad-ASJ GNOMAD NFE 14992 -=0.99859923 TACCTGAA=0.00140075 gnomad-NFE GNOMAD FEMALE 13842 -=0.97630399 TACCTGAA=0.02369600 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2750672927 No sufficient data to compute Hardy-weinberg probability for ss2750672927.   Submitted individual genotype for ss2750672927 There is no individual genotype data for ss2750672927.

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