Submitter Handle GNOMAD Submitter SNP ID gnomad_20_62583183 RefSNP(rs#) rs1490964401 Submitted Batch ID genome_batch_chr20 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/A 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|ss2969479322|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic CCCCGCCCAC AGAAACAGGG TTTCG R CCCCACCCTC CGCAGAGTCA GTCAA   Submitted Frequency for ss2969479322 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14970 G=1.00000000 A=0.00000000 gnomad-NFE GNOMAD FEMALE 13832 G=1.00000000 A=0.00000000 gnomad-FEMALE GNOMAD OTH 982 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD ASJ 300 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD AMR 838 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD EAS 1622 G=0.99938345 A=0.00061652 gnomad-EAS GNOMAD FIN 3492 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD MALE 17078 G=0.99994147 A=0.00005855 gnomad-MALE GNOMAD AFR 8706 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD   dbSNP summary of Genotypes for ss2969479322 No sufficient data to compute Hardy-weinberg probability for ss2969479322.   Submitted individual genotype for ss2969479322 There is no individual genotype data for ss2969479322.

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