Submitter Handle GNOMAD Submitter SNP ID gnomad_2_114378085 RefSNP(rs#) rs1489994431 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 GAA/- 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|ss2778197835|allelePos=26|len=51|taxid=9606|alleles='GAA/-'|mol=Genomic CAGTCATGAG ATGTAAATAA ATGAG N GAAGATTTTT GAGCCACTGA AATTT   Submitted Frequency for ss2778197835 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 766 GAA=1.00000000 -=0.00000000 gnomad-AMR GNOMAD OTH 876 GAA=1.00000000 -=0.00000000 gnomad-OTH GNOMAD NFE 13374 GAA=0.99992526 -=0.00007477 gnomad-NFE GNOMAD ASJ 218 GAA=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD EAS 1578 GAA=1.00000000 -=0.00000000 gnomad-EAS GNOMAD FIN 3404 GAA=1.00000000 -=0.00000000 gnomad-FIN GNOMAD FEMALE 12872 GAA=0.99992234 -=0.00007769 gnomad-FEMALE GNOMAD AFR 8470 GAA=0.99988192 -=0.00011806 gnomad-AFR GNOMAD MALE 15814 GAA=0.99993676 -=0.00006324 gnomad-MALE GNOMAD   dbSNP summary of Genotypes for ss2778197835 No sufficient data to compute Hardy-weinberg probability for ss2778197835.   Submitted individual genotype for ss2778197835 There is no individual genotype data for ss2778197835.

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