Submitter Handle GNOMAD Submitter SNP ID rs11807848 RefSNP(rs#) rs11807848 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 T/C 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|ss2750672758|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic CCAGGCTGGG GTATCCCATC CAGAC Y TTCGCCCTCT GTACCCTTCG TGCTG   Submitted Frequency for ss2750672758 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter ASJ 302 T=0.65894037 C=0.34105960 gnomad-ASJ GNOMAD MALE 17042 T=0.62744981 C=0.37255016 gnomad-MALE GNOMAD FIN 3484 T=0.63547647 C=0.36452353 gnomad-FIN GNOMAD EAS 1608 T=0.76057214 C=0.23942786 gnomad-EAS GNOMAD NFE 14932 T=0.59268683 C=0.40731314 gnomad-NFE GNOMAD FEMALE 13808 T=0.61920625 C=0.38079375 gnomad-FEMALE GNOMAD AFR 8716 T=0.64616799 C=0.35383204 gnomad-AFR GNOMAD AMR 836 T=0.65669858 C=0.34330145 gnomad-AMR GNOMAD OTH 972 T=0.59259260 C=0.40740740 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2750672758 No sufficient data to compute Hardy-weinberg probability for ss2750672758.   Submitted individual genotype for ss2750672758 There is no individual genotype data for ss2750672758.

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