Submitter Handle GNOMAD Submitter SNP ID gnomad_17_47888873 RefSNP(rs#) rs1485878514 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 A/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|ss2950436366|allelePos=26|len=51|taxid=9606|alleles='A/T'|mol=Genomic AGAGACAGCT TCGATATAAG GAAAA W GTGGCTGAAC TCAGGAAGAA AAGAA   Submitted Frequency for ss2950436366 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8730 A=1.00000000 T=0.00000000 gnomad-AFR GNOMAD EAS 1622 A=0.99938345 T=0.00061652 gnomad-EAS GNOMAD FEMALE 13854 A=1.00000000 T=0.00000000 gnomad-FEMALE GNOMAD FIN 3490 A=1.00000000 T=0.00000000 gnomad-FIN GNOMAD OTH 982 A=1.00000000 T=0.00000000 gnomad-OTH GNOMAD AMR 836 A=1.00000000 T=0.00000000 gnomad-AMR GNOMAD MALE 17120 A=0.99994159 T=0.00005841 gnomad-MALE GNOMAD ASJ 302 A=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD NFE 15012 A=1.00000000 T=0.00000000 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2950436366 No sufficient data to compute Hardy-weinberg probability for ss2950436366.   Submitted individual genotype for ss2950436366 There is no individual genotype data for ss2950436366.

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