Submitter Handle GNOMAD Submitter SNP ID gnomad_2_231683357 RefSNP(rs#) rs1431462690 Submitted Batch ID genome_batch_chr2 Submitted Date May 17, 2017 Publication Cited N.D. First entry to dbSNP May 17 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/A 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|ss2787458664|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic GACGGAGGAT GAGCAGTTTA ACGAC R AGAAGACCTA TTTAGTTAAA CAGAT   Submitted Frequency for ss2787458664 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 15010 G=1.00000000 A=0.00000000 gnomad-NFE GNOMAD OTH 982 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD FIN 3492 G=0.99971366 A=0.00028637 gnomad-FIN GNOMAD FEMALE 13856 G=0.99985564 A=0.00014434 gnomad-FEMALE GNOMAD EAS 1620 G=0.99938273 A=0.00061728 gnomad-EAS GNOMAD MALE 17122 G=1.00000000 A=0.00000000 gnomad-MALE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD AMR 838 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD AFR 8734 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD   dbSNP summary of Genotypes for ss2787458664 No sufficient data to compute Hardy-weinberg probability for ss2787458664.   Submitted individual genotype for ss2787458664 There is no individual genotype data for ss2787458664.

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