Submitter Handle GNOMAD Submitter SNP ID gnomad_19_18000234 RefSNP(rs#) rs1491548374 Submitted Batch ID genome_batch_chr19 Submitted Date May 23, 2017 Publication Cited N.D. First entry to dbSNP May 23 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 -/GAAGGAAGGAAGGAAA 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|ss2961125593|allelePos=26|len=51|taxid=9606|alleles='-/GAAGGAAGGAAGGAAA'|mol=Genomic AGAAAGAAAG AAAGAAGGAA GGAAG N GAAGGAAGGA AGGAAGGAAA GAGAA   Submitted Frequency for ss2961125593 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8480 -=0.99988210 GAAGGAAGGAAGGAAA=0.00011792 gnomad-AFR GNOMAD MALE 16500 -=0.99993938 GAAGGAAGGAAGGAAA=0.00006061 gnomad-MALE GNOMAD ASJ 296 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-ASJ GNOMAD FIN 3374 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-FIN GNOMAD AMR 804 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-AMR GNOMAD EAS 1570 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-EAS GNOMAD OTH 938 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-OTH GNOMAD FEMALE 13324 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-FEMALE GNOMAD NFE 14362 -=1.00000000 GAAGGAAGGAAGGAAA=0.00000000 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2961125593 No sufficient data to compute Hardy-weinberg probability for ss2961125593.   Submitted individual genotype for ss2961125593 There is no individual genotype data for ss2961125593.

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