Submitter Handle GNOMAD Submitter SNP ID rs189107123 RefSNP(rs#) rs189107123 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/G/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|ss2750600960|allelePos=26|len=51|taxid=9606|alleles='C/G/T'|mol=Genomic CTCCGGGTCT GTGCTGAGGA GAACG B AACTCCGCCG TTGCAAAGGC GCGCC   Submitted Frequency for ss2750600960 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 72 C=0.98611110 G=0.01388889 T=0.00000000 gnomad-AMR GNOMAD NFE 1960 C=0.97653061 G=0.02346939 T=0.00000000 gnomad-NFE GNOMAD AFR 602 C=0.63289034 G=0.34883720 T=0.01827243 gnomad-AFR GNOMAD EAS 70 C=0.44285715 G=0.55714285 T=0.00000000 gnomad-EAS GNOMAD ASJ 36 C=0.97222221 G=0.02777778 T=0.00000000 gnomad-ASJ GNOMAD OTH 98 C=0.93877554 G=0.06122449 T=0.00000000 gnomad-OTH GNOMAD FEMALE 1490 C=0.91476512 G=0.08120805 T=0.00402685 gnomad-FEMALE GNOMAD MALE 2062 C=0.90931135 G=0.08826382 T=0.00242483 gnomad-MALE GNOMAD FIN 714 C=1.00000000 G=0.00000000 T=0.00000000 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2750600960 No sufficient data to compute Hardy-weinberg probability for ss2750600960.   Submitted individual genotype for ss2750600960 There is no individual genotype data for ss2750600960.

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