Submitter Handle GNOMAD Submitter SNP ID gnomad_3_49132222 RefSNP(rs#) rs1490692580 Submitted Batch ID genome_batch_chr3 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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 TAGAG/- 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|ss2792626226|allelePos=26|len=51|taxid=9606|alleles='TAGAG/-'|mol=Genomic TGATTCCCTT CAGAAGTCAC TTCGT N TAATGTTTTC TGAGGCCCAG GCTGG   Submitted Frequency for ss2792626226 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 978 TAGAG=1.00000000 -=0.00000000 gnomad-OTH GNOMAD FEMALE 13852 TAGAG=0.99992782 -=0.00007219 gnomad-FEMALE GNOMAD EAS 1622 TAGAG=1.00000000 -=0.00000000 gnomad-EAS GNOMAD NFE 15010 TAGAG=0.99993336 -=0.00006662 gnomad-NFE GNOMAD AFR 8732 TAGAG=0.99988550 -=0.00011452 gnomad-AFR GNOMAD FIN 3490 TAGAG=1.00000000 -=0.00000000 gnomad-FIN GNOMAD ASJ 302 TAGAG=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD AMR 838 TAGAG=1.00000000 -=0.00000000 gnomad-AMR GNOMAD MALE 17120 TAGAG=0.99994159 -=0.00005841 gnomad-MALE GNOMAD   dbSNP summary of Genotypes for ss2792626226 No sufficient data to compute Hardy-weinberg probability for ss2792626226.   Submitted individual genotype for ss2792626226 There is no individual genotype data for ss2792626226.

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