Submitter Handle GNOMAD Submitter SNP ID gnomad_2_130729089 RefSNP(rs#) rs1491092750 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 -/G 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|ss2779548507|allelePos=26|len=51|taxid=9606|alleles='-/G'|mol=Genomic GTGCCTGCTA CCATGCCCAG CTAAT N TTGTGTGTGT GTGTGTGTGT GTGTG   Submitted Frequency for ss2779548507 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 11926 -=0.99974847 G=0.00025155 gnomad-FEMALE GNOMAD AMR 732 -=1.00000000 G=0.00000000 gnomad-AMR GNOMAD FIN 3126 -=1.00000000 G=0.00000000 gnomad-FIN GNOMAD NFE 13250 -=0.99932075 G=0.00067925 gnomad-NFE GNOMAD MALE 14808 -=0.99959481 G=0.00040519 gnomad-MALE GNOMAD EAS 1498 -=1.00000000 G=0.00000000 gnomad-EAS GNOMAD ASJ 254 -=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD OTH 830 -=1.00000000 G=0.00000000 gnomad-OTH GNOMAD AFR 7044 -=1.00000000 G=0.00000000 gnomad-AFR GNOMAD   dbSNP summary of Genotypes for ss2779548507 No sufficient data to compute Hardy-weinberg probability for ss2779548507.   Submitted individual genotype for ss2779548507 There is no individual genotype data for ss2779548507.

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