Submitter Handle GNOMAD Submitter SNP ID gnomad_7_45197454 RefSNP(rs#) rs1447506087 Submitted Batch ID genome_batch_chr7 Submitted Date May 19, 2017 Publication Cited N.D. First entry to dbSNP May 19 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/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|ss2852538171|allelePos=26|len=51|taxid=9606|alleles='G/T'|mol=Genomic TGGAGACTGG AGCGCTGCGG CGCCC K CAACTTCTCC CGTTGCTGCT GCTGC   Submitted Frequency for ss2852538171 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14986 G=0.99993324 T=0.00006673 gnomad-NFE GNOMAD AFR 8690 G=1.00000000 T=0.00000000 gnomad-AFR GNOMAD MALE 17072 G=1.00000000 T=0.00000000 gnomad-MALE GNOMAD FIN 3490 G=1.00000000 T=0.00000000 gnomad-FIN GNOMAD OTH 982 G=1.00000000 T=0.00000000 gnomad-OTH GNOMAD AMR 834 G=1.00000000 T=0.00000000 gnomad-AMR GNOMAD ASJ 302 G=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD FEMALE 13832 G=0.99992770 T=0.00007230 gnomad-FEMALE GNOMAD EAS 1620 G=1.00000000 T=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2852538171 No sufficient data to compute Hardy-weinberg probability for ss2852538171.   Submitted individual genotype for ss2852538171 There is no individual genotype data for ss2852538171.

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