Submitter Handle GNOMAD Submitter SNP ID gnomad_19_60462 RefSNP(rs#) rs1183334987 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 C/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|ss2959401997|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic GGGAACTGCC CCTGCACATA GTGAA Y GGCTCACTGA GCAAACCCCG AGTCC   Submitted Frequency for ss2959401997 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter MALE 5232 C=0.99732417 T=0.00267584 gnomad-MALE GNOMAD AFR 1276 C=0.99921632 T=0.00078370 gnomad-AFR GNOMAD OTH 370 C=0.99459457 T=0.00540541 gnomad-OTH GNOMAD ASJ 104 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD AMR 402 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD EAS 96 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD FEMALE 4400 C=0.99545455 T=0.00454545 gnomad-FEMALE GNOMAD NFE 4622 C=0.99480742 T=0.00519256 gnomad-NFE GNOMAD FIN 2762 C=0.99746561 T=0.00253440 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2959401997 No sufficient data to compute Hardy-weinberg probability for ss2959401997.   Submitted individual genotype for ss2959401997 There is no individual genotype data for ss2959401997.

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