Submitter Handle GNOMAD Submitter SNP ID gnomad_12_120650505 RefSNP(rs#) rs1451076516 Submitted Batch ID genome_batch_chr12 Submitted Date May 22, 2017 Publication Cited N.D. First entry to dbSNP May 22 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|ss2915914519|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic GTGACTCCTA CTTGCTAGGC GTTTC Y CATGTGCCGT GTTGTCCTAA ACGCT   Submitted Frequency for ss2915914519 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13842 C=1.00000000 T=0.00000000 gnomad-FEMALE GNOMAD MALE 17104 C=0.99994153 T=0.00005847 gnomad-MALE GNOMAD AMR 838 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD FIN 3494 C=1.00000000 T=0.00000000 gnomad-FIN GNOMAD AFR 8724 C=0.99988538 T=0.00011463 gnomad-AFR GNOMAD EAS 1622 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD OTH 982 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD NFE 14984 C=1.00000000 T=0.00000000 gnomad-NFE GNOMAD ASJ 302 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD   dbSNP summary of Genotypes for ss2915914519 No sufficient data to compute Hardy-weinberg probability for ss2915914519.   Submitted individual genotype for ss2915914519 There is no individual genotype data for ss2915914519.

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