Submitter Handle GNOMAD Submitter SNP ID rs115023808 RefSNP(rs#) rs115023808 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/A 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|ss2750679139|allelePos=26|len=51|taxid=9606|alleles='C/A'|mol=Genomic CTGCAGACTC GGATGACACT AACGC M GCCGGGCCCT CAGCTGCCCT CCTGG   Submitted Frequency for ss2750679139 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter MALE 17032 C=0.98673087 A=0.01326914 gnomad-MALE GNOMAD NFE 14940 C=1.00000000 A=0.00000000 gnomad-NFE GNOMAD FIN 3490 C=1.00000000 A=0.00000000 gnomad-FIN GNOMAD AMR 838 C=0.99761337 A=0.00238663 gnomad-AMR GNOMAD AFR 8680 C=0.95702767 A=0.04297235 gnomad-AFR GNOMAD ASJ 302 C=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD OTH 982 C=0.99898165 A=0.00101833 gnomad-OTH GNOMAD EAS 1620 C=1.00000000 A=0.00000000 gnomad-EAS GNOMAD FEMALE 13820 C=0.98914617 A=0.01085384 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2750679139 No sufficient data to compute Hardy-weinberg probability for ss2750679139.   Submitted individual genotype for ss2750679139 There is no individual genotype data for ss2750679139.

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