Submitter Handle GNOMAD Submitter SNP ID gnomad_17_18965608 RefSNP(rs#) rs1480507997 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|ss2948392555|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic GGTGGCTTTT TAATTTTAGT CTTGG Y GCGAGGCGGG GGATGCTGTG TGGCA   Submitted Frequency for ss2948392555 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 694 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD AFR 8234 C=0.99987853 T=0.00012145 gnomad-AFR GNOMAD MALE 11898 C=0.99991596 T=0.00008405 gnomad-MALE GNOMAD EAS 1366 C=0.99926794 T=0.00073206 gnomad-EAS GNOMAD NFE 8052 C=1.00000000 T=0.00000000 gnomad-NFE GNOMAD ASJ 176 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD FEMALE 9326 C=0.99989277 T=0.00010723 gnomad-FEMALE GNOMAD FIN 2114 C=1.00000000 T=0.00000000 gnomad-FIN GNOMAD OTH 588 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2948392555 No sufficient data to compute Hardy-weinberg probability for ss2948392555.   Submitted individual genotype for ss2948392555 There is no individual genotype data for ss2948392555.

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