Submitter Handle GNOMAD Submitter SNP ID gnomad_17_16342766 RefSNP(rs#) rs1486999146 Submitted Batch ID genome_batch_chr17 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|ss2948177070|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic CGGCTTGCAG TTTGGGGTAC CCCGA R GGCGGTGTAC GTCGGTAAGA TTGTA   Submitted Frequency for ss2948177070 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13862 G=1.00000000 A=0.00000000 gnomad-FEMALE GNOMAD NFE 15004 G=0.99993336 A=0.00006665 gnomad-NFE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD AFR 8728 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD OTH 982 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD MALE 17108 G=0.99994153 A=0.00005845 gnomad-MALE GNOMAD EAS 1622 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD FIN 3494 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD AMR 838 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2948177070 No sufficient data to compute Hardy-weinberg probability for ss2948177070.   Submitted individual genotype for ss2948177070 There is no individual genotype data for ss2948177070.

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