Submitter Handle GNOMAD Submitter SNP ID rs1053593 RefSNP(rs#) rs1053593 Submitted Batch ID genome_batch_chr22 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 G/T Ancestral Allele N.D. Allele Origin N/A SNP Class SNV 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|ss2974306451|allelePos=26|len=51|taxid=9606|alleles='G/T'|mol=Genomic GGGGAACTAC CCCTAGAGGA TGGTG K CTCCCACAAA TCGAAAAAAA TGAAA   Submitted Frequency for ss2974306451 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13792 G=0.50224769 T=0.49775231 gnomad-FEMALE GNOMAD FIN 3486 T=0.58950084 G=0.41049913 gnomad-FIN GNOMAD OTH 974 T=0.57494867 G=0.42505133 gnomad-OTH GNOMAD EAS 1612 T=0.55272955 G=0.44727048 gnomad-EAS GNOMAD MALE 17056 G=0.51424718 T=0.48575282 gnomad-MALE GNOMAD ASJ 298 T=0.70469797 G=0.29530200 gnomad-ASJ GNOMAD NFE 14928 T=0.64435959 G=0.35564041 gnomad-NFE GNOMAD AFR 8714 G=0.84989673 T=0.15010329 gnomad-AFR GNOMAD AMR 836 T=0.60645932 G=0.39354068 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2974306451 No sufficient data to compute Hardy-weinberg probability for ss2974306451.   Submitted individual genotype for ss2974306451 There is no individual genotype data for ss2974306451.

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