Submitter Handle GNOMAD Submitter SNP ID gnomad_7_14336 RefSNP(rs#) rs1313456509 Submitted Batch ID genome_batch_chr7 Submitted Date May 19, 2017 Publication Cited N.D. First entry to dbSNP May 19 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|ss2848468648|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic AGGCATAAAA GGATTTCAGA ATTTC Y GTCCATAAGG AAGTGGCTTT GTGCA   Submitted Frequency for ss2848468648 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 492 C=1.00000000 T=0.00000000 gnomad-FIN GNOMAD NFE 792 C=0.99747473 T=0.00252525 gnomad-NFE GNOMAD EAS 150 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD OTH 92 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD FEMALE 806 C=0.99875933 T=0.00124069 gnomad-FEMALE GNOMAD ASJ 10 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD AMR 96 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD AFR 74 C=1.00000000 T=0.00000000 gnomad-AFR GNOMAD MALE 900 C=0.99888891 T=0.00111111 gnomad-MALE GNOMAD   dbSNP summary of Genotypes for ss2848468648 No sufficient data to compute Hardy-weinberg probability for ss2848468648.   Submitted individual genotype for ss2848468648 There is no individual genotype data for ss2848468648.

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