Submitter Handle GNOMAD Submitter SNP ID gnomad_17_79858199 RefSNP(rs#) rs1474822518 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 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|ss2953091617|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic GTCTCGGTGT GTTTTGATAT GAAAA Y TCTCATGAAT AAACATCTCC GTGAA   Submitted Frequency for ss2953091617 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter EAS 1618 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD NFE 14980 C=1.00000000 T=0.00000000 gnomad-NFE GNOMAD OTH 978 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD FEMALE 13822 C=0.99992764 T=0.00007235 gnomad-FEMALE GNOMAD AFR 8700 C=0.99965519 T=0.00034483 gnomad-AFR GNOMAD MALE 17082 C=0.99988294 T=0.00011708 gnomad-MALE GNOMAD ASJ 302 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD FIN 3488 C=1.00000000 T=0.00000000 gnomad-FIN GNOMAD AMR 838 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2953091617 No sufficient data to compute Hardy-weinberg probability for ss2953091617.   Submitted individual genotype for ss2953091617 There is no individual genotype data for ss2953091617.

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