Submitter Handle GNOMAD Submitter SNP ID gnomad_8_18050977 RefSNP(rs#) rs1364077230 Submitted Batch ID genome_batch_chr8 Submitted Date May 19, 2017 Publication Cited N.D. First entry to dbSNP May 19 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 -/TA 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|ss2863912047|allelePos=26|len=51|taxid=9606|alleles='-/TA'|mol=Genomic GAGACTCTGT CTAAAAAAAA AAATT N TATATATATA TGTATATAAT CTGAT   Submitted Frequency for ss2863912047 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter EAS 1578 -=1.00000000 TA=0.00000000 gnomad-EAS GNOMAD OTH 696 -=1.00000000 TA=0.00000000 gnomad-OTH GNOMAD FIN 694 -=1.00000000 TA=0.00000000 gnomad-FIN GNOMAD AMR 354 -=1.00000000 TA=0.00000000 gnomad-AMR GNOMAD AFR 8048 -=0.99987572 TA=0.00012425 gnomad-AFR GNOMAD ASJ 258 -=1.00000000 TA=0.00000000 gnomad-ASJ GNOMAD FEMALE 11138 -=0.99946129 TA=0.00053870 gnomad-FEMALE GNOMAD NFE 14040 -=0.99950141 TA=0.00049858 gnomad-NFE GNOMAD MALE 14530 -=0.99986237 TA=0.00013765 gnomad-MALE GNOMAD   dbSNP summary of Genotypes for ss2863912047 No sufficient data to compute Hardy-weinberg probability for ss2863912047.   Submitted individual genotype for ss2863912047 There is no individual genotype data for ss2863912047.

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