Submitter Handle GNOMAD Submitter SNP ID gnomad_5_145465574 RefSNP(rs#) rs1490201223 Submitted Batch ID genome_batch_chr5 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 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|ss2831930939|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic ATAACAGACA TCTATTTCTA TAAGT R TAATTGAAAG GTCTTTTTTT TTTTT   Submitted Frequency for ss2831930939 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 2288 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD AMR 622 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD EAS 1602 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD AFR 8184 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD NFE 14376 G=0.99993044 A=0.00006956 gnomad-NFE GNOMAD ASJ 296 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD MALE 15708 G=1.00000000 A=0.00000000 gnomad-MALE GNOMAD FEMALE 12526 G=0.99992019 A=0.00007983 gnomad-FEMALE GNOMAD OTH 866 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2831930939 No sufficient data to compute Hardy-weinberg probability for ss2831930939.   Submitted individual genotype for ss2831930939 There is no individual genotype data for ss2831930939.

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