Submitter Handle GNOMAD Submitter SNP ID rs1229984 RefSNP(rs#) rs1229984 Submitted Batch ID genome_batch_chr4 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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 G:Germline A:Germline 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|ss2812860208|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic GCCACTAACC ACGTGGTCAT CTGTG Y GACAGATTCC TACAGCCACC ATCTA   Submitted Frequency for ss2812860208 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 3494 C=0.99685174 T=0.00314825 gnomad-FIN GNOMAD ASJ 302 C=0.76158941 T=0.23841059 gnomad-ASJ GNOMAD AFR 8716 C=0.98760897 T=0.01239100 gnomad-AFR GNOMAD FEMALE 13844 C=0.94806415 T=0.05193586 gnomad-FEMALE GNOMAD NFE 15004 C=0.96820849 T=0.03179152 gnomad-NFE GNOMAD OTH 980 C=0.95306122 T=0.04693878 gnomad-OTH GNOMAD MALE 17106 C=0.92926461 T=0.07073542 gnomad-MALE GNOMAD EAS 1616 T=0.72091585 C=0.27908415 gnomad-EAS GNOMAD AMR 838 C=0.94033414 T=0.05966587 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2812860208 No sufficient data to compute Hardy-weinberg probability for ss2812860208.   Submitted individual genotype for ss2812860208 There is no individual genotype data for ss2812860208.

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