Submitter Handle GNOMAD Submitter SNP ID gnomad_1_70680599 RefSNP(rs#) rs1491305204 Submitted Batch ID genome_batch_chr1 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 -/TTA Ancestral Allele N.D. Allele Origin N/A SNP Class DIV 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|ss2756337655|allelePos=26|len=51|taxid=9606|alleles='-/TTA'|mol=Genomic AAGTTTTTTT TTTTTTTTTT TTTTT N GAGACAGAGT CTTGCCCTGT CGCCT   Submitted Frequency for ss2756337655 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 2630 -=0.99961978 TTA=0.00038023 gnomad-FIN GNOMAD AFR 6270 -=1.00000000 TTA=0.00000000 gnomad-AFR GNOMAD MALE 13522 -=0.99992603 TTA=0.00007395 gnomad-MALE GNOMAD FEMALE 10954 -=0.99990869 TTA=0.00009129 gnomad-FEMALE GNOMAD EAS 1110 -=1.00000000 TTA=0.00000000 gnomad-EAS GNOMAD AMR 606 -=0.99834985 TTA=0.00165017 gnomad-AMR GNOMAD ASJ 254 -=1.00000000 TTA=0.00000000 gnomad-ASJ GNOMAD NFE 12842 -=1.00000000 TTA=0.00000000 gnomad-NFE GNOMAD OTH 764 -=1.00000000 TTA=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2756337655 No sufficient data to compute Hardy-weinberg probability for ss2756337655.   Submitted individual genotype for ss2756337655 There is no individual genotype data for ss2756337655.

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