Submitter Handle GNOMAD Submitter SNP ID gnomad_1_10303 RefSNP(rs#) rs1043791617 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 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|ss2750600867|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic CTAACCCTAA CCCCAACCCC AACCC Y AACCCCAACC CCAACCCCAA CCCTA   Submitted Frequency for ss2750600867 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 1570 C=1.00000000 T=0.00000000 gnomad-FIN GNOMAD EAS 1006 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD OTH 476 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD FEMALE 7052 C=0.99985820 T=0.00014180 gnomad-FEMALE GNOMAD NFE 7588 C=0.99986821 T=0.00013179 gnomad-NFE GNOMAD AFR 4774 C=1.00000000 T=0.00000000 gnomad-AFR GNOMAD MALE 8878 C=1.00000000 T=0.00000000 gnomad-MALE GNOMAD ASJ 152 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD AMR 364 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2750600867 No sufficient data to compute Hardy-weinberg probability for ss2750600867.   Submitted individual genotype for ss2750600867 There is no individual genotype data for ss2750600867.

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