Submitter Handle GNOMAD Submitter SNP ID gnomad_3_140420070 RefSNP(rs#) rs1488782810 Submitted Batch ID genome_batch_chr3 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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 T/C 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|ss2799890546|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic GCAAGGCACT CAGCAAGTCT GTATA Y TTCCAGCTGC TCAGGTCTAG TCCTA   Submitted Frequency for ss2799890546 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13852 T=1.00000000 C=0.00000000 gnomad-FEMALE GNOMAD NFE 15006 T=1.00000000 C=0.00000000 gnomad-NFE GNOMAD ASJ 302 T=1.00000000 C=0.00000000 gnomad-ASJ GNOMAD FIN 3490 T=1.00000000 C=0.00000000 gnomad-FIN GNOMAD OTH 980 T=1.00000000 C=0.00000000 gnomad-OTH GNOMAD AFR 8724 T=0.99988538 C=0.00011463 gnomad-AFR GNOMAD MALE 17108 T=0.99994153 C=0.00005845 gnomad-MALE GNOMAD EAS 1620 T=1.00000000 C=0.00000000 gnomad-EAS GNOMAD AMR 838 T=1.00000000 C=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2799890546 No sufficient data to compute Hardy-weinberg probability for ss2799890546.   Submitted individual genotype for ss2799890546 There is no individual genotype data for ss2799890546.

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