Submitter Handle GNOMAD Submitter SNP ID rs528208719 RefSNP(rs#) rs1491461041 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 -/AAAA 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|ss2960399720|allelePos=26|len=51|taxid=9606|alleles='-/AAAA'|mol=Genomic TGCTTCAGTG GTCACACTCC TAGTC N CGCCTTCATG TTCCATCCTG TACAC   Submitted Frequency for ss2960399720 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 982 -=0.91446030 AAAA=0.08553971 gnomad-OTH GNOMAD EAS 1620 -=0.95432097 AAAA=0.04567901 gnomad-EAS GNOMAD MALE 17086 -=0.89558703 AAAA=0.10441297 gnomad-MALE GNOMAD NFE 14992 -=0.93776679 AAAA=0.06223319 gnomad-NFE GNOMAD FIN 3492 -=0.94558990 AAAA=0.05441008 gnomad-FIN GNOMAD FEMALE 13836 -=0.89989883 AAAA=0.10010119 gnomad-FEMALE GNOMAD AMR 838 -=0.86992842 AAAA=0.13007160 gnomad-AMR GNOMAD AFR 8696 -=0.79680312 AAAA=0.20319687 gnomad-AFR GNOMAD ASJ 302 -=0.96026492 AAAA=0.03973510 gnomad-ASJ GNOMAD   dbSNP summary of Genotypes for ss2960399720 No sufficient data to compute Hardy-weinberg probability for ss2960399720.   Submitted individual genotype for ss2960399720 There is no individual genotype data for ss2960399720.

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