Submitter Handle GNOMAD Submitter SNP ID rs112791300 RefSNP(rs#) rs112791300 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 GTGT/- 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|ss2750646080|allelePos=26|len=51|taxid=9606|alleles='GTGT/-'|mol=Genomic GAGAGAGCGA GGCGGCTGGA GGTGG N GTGACACCAG GTGACTTAGC GGCCC   Submitted Frequency for ss2750646080 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14966 GTGT=0.97774959 -=0.02225043 gnomad-NFE GNOMAD ASJ 302 GTGT=0.97019869 -=0.02980132 gnomad-ASJ GNOMAD FIN 3490 GTGT=0.95673352 -=0.04326648 gnomad-FIN GNOMAD AFR 8712 GTGT=0.94123048 -=0.05876951 gnomad-AFR GNOMAD OTH 980 GTGT=0.97346938 -=0.02653061 gnomad-OTH GNOMAD EAS 1622 GTGT=0.98212081 -=0.01787916 gnomad-EAS GNOMAD MALE 17078 GTGT=0.96463287 -=0.03536714 gnomad-MALE GNOMAD FEMALE 13832 GTGT=0.96580392 -=0.03419607 gnomad-FEMALE GNOMAD AMR 838 GTGT=0.97971362 -=0.02028640 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2750646080 No sufficient data to compute Hardy-weinberg probability for ss2750646080.   Submitted individual genotype for ss2750646080 There is no individual genotype data for ss2750646080.

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